Francesco Muntoni | Academic Influence

Why Is Francesco Muntoni Influential?

Francesco Muntoni's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy (1999) (1287)
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. (1999) (1239)
The UK10K project identifies rare variants in health and disease (2015) (926)
Dystrophin and mutations: one gene, several proteins, multiple phenotypes (2003) (901)
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study (2011) (819)
Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area (1985) (794)
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study (2009) (648)
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. (2001) (576)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care (2017) (484)
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (2001) (469)
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (2000) (468)
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study (1996) (422)
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (2003) (414)
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. (2003) (414)
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. (1993) (409)
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy (1999) (405)
Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy (1998) (399)
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (2007) (394)
Lack of myostatin results in excessive muscle growth but impaired force generation (2007) (372)
Muscle MRI in inherited neuromuscular disorders: Past, present, and future (2007) (362)
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome (2005) (358)
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics (2017) (354)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016) (349)
A mutation in the thyroid hormone receptor alpha gene. (2012) (341)
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. (2000) (336)
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome (2001) (321)
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. (2002) (316)
Mutation in BAG3 causes severe dominant childhood muscular dystrophy (2008) (315)
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 (2001) (311)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (2013) (303)
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (1999) (302)
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (2017) (302)
107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands (2003) (287)
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study (2014) (283)
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts (2003) (274)
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. (2010) (270)
Diagnostic approach to the congenital muscular dystrophies (2014) (263)
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome (2004) (259)
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration (2008) (255)
De novo LMNA mutations cause a new form of congenital muscular dystrophy (2008) (251)
A dystroglycan mutation associated with limb-girdle muscular dystrophy. (2011) (240)
The congenital muscular dystrophies in 2004: a century of exciting progress (2004) (239)
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2005) (235)
RYR1 mutations are a common cause of congenital myopathies with central nuclei (2010) (234)
Dystroglycanopathies: coming into focus. (2011) (228)
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia (2008) (219)
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis (2014) (218)
Clinical StudiesFamilial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity☆ (1999) (217)
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome (2012) (216)
Phenotypic spectrum associated with mutations in the fukutin‐related protein gene (2003) (216)
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders (2011) (214)
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy (2012) (207)
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. (2001) (207)
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. (2003) (206)
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy (2012) (201)
The relationship between lean body mass and bone mineral content in paediatric health and disease. (2004) (199)
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. (2013) (194)
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations (2016) (194)
SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function (2013) (184)
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1) (2002) (182)
The phenotype of limb-girdle muscular dystrophy type 2I (2003) (181)
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies (2010) (177)
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (2013) (177)
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene (1998) (171)
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands (2004) (169)
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. (1999) (169)
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. (2008) (167)
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human (2007) (166)
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction (2018) (166)
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. (2013) (164)
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. (2007) (162)
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis (2013) (161)
Defective glycosylation in muscular dystrophy (2002) (159)
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion (2010) (159)
Lancet Commission: Stem cells and regenerative medicine (2017) (159)
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. (1996) (158)
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation (2008) (158)
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy (2005) (157)
Demyelinating Peripheral Neuropathy in Merosin-Deficient Congenital Muscular Dystrophy (1995) (157)
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (2013) (156)
Fracture prevalence in Duchenne muscular dystrophy. (2002) (155)
Spinal muscular atrophy (2011) (155)
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures (2005) (154)
A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene (1993) (154)
DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. (1998) (154)
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations (2010) (152)
Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. (2007) (151)
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy (2020) (149)
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores (2002) (148)
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. (2001) (147)
Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy (2006) (146)
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. (2013) (146)
Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies (2004) (146)
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies (2012) (145)
Update on the management of Duchenne muscular dystrophy (2008) (145)
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands (2015) (144)
Targeting RNA to treat neuromuscular disease (2011) (143)
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials (2015) (142)
Oxidative stress in SEPN1‐related myopathy: From pathophysiology to treatment (2009) (142)
Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles. (1997) (142)
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 (2013) (141)
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy (2016) (141)
Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease. (2000) (140)
Muscle histology vs MRI in Duchenne muscular dystrophy (2011) (139)
Defective glycosylation in congenital muscular dystrophies (2004) (136)
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine (2010) (136)
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. (2008) (136)
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy (2013) (135)
Natural history of Ullrich congenital muscular dystrophy (2009) (134)
Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability (2012) (132)
Revised upper limb module for spinal muscular atrophy: Development of a new module (2017) (131)
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. (2012) (131)
Sardinian multiple sclerosis is associated with HLA‐DR4 (1988) (131)
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations (2004) (130)
Functional requirements for fukutin-related protein in the Golgi apparatus. (2002) (130)
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene (2005) (127)
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (2006) (126)
Are Human and Mouse Satellite Cells Really the Same? (2010) (126)
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. (1998) (125)
Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues (2017) (123)
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. (1993) (121)
A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity (2009) (121)
Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations (2001) (120)
Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges (2008) (120)
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy (2005) (119)
Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. (2012) (119)
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. (2004) (118)
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. (2012) (118)
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene (2003) (118)
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. (2011) (118)
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) (2003) (118)
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. (1995) (117)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 (2017) (117)
A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice. (2013) (116)
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. (2006) (115)
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. (2006) (114)
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom (2013) (114)
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. (2012) (114)
A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping (2010) (114)
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts (2003) (114)
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials (2015) (112)
X-linked dilated cardiomyopathy and the dystrophin gene (1999) (112)
The ever‐expanding spectrum of congenital muscular dystrophies (2012) (110)
Daily salbutamol in young patients with SMA type II (2008) (110)
Muscular dystrophies due to glycosylation defects (2008) (110)
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging (1999) (110)
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene (2007) (108)
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (2011) (107)
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I (2004) (107)
Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders (2005) (107)
Congenital muscular dystrophy: molecular and cellular aspects (2005) (107)
Characterization of recessive RYR1 mutations in core myopathies. (2006) (106)
The expanding phenotype of POMT1 mutations: from Walker‐Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation (2006) (105)
Expression of laminin subunits in congenital muscular dystrophy (1995) (105)
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies (2015) (104)
Neurofilament as a potential biomarker for spinal muscular atrophy (2019) (104)
Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study (2002) (104)
Magnetic resonance imaging of muscle in nemaline myopathy (2004) (104)
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. (1997) (103)
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy (2011) (103)
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies (2014) (103)
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (2005) (102)
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy (2015) (101)
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. (2006) (101)
Effect of Ryanodine Receptor Mutations on Interleukin-6 Release and Intracellular Calcium Homeostasis in Human Myotubes from Malignant Hyperthermia-susceptible Individuals and Patients Affected by Central Core Disease* (2004) (101)
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations (2006) (100)
Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. (2011) (99)
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (2013) (99)
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. (2002) (97)
Passive avoidance behaviour deficit in the mdx mouse (1991) (97)
Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort (2017) (96)
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. (2016) (96)
Cardiomyopathy in muscular dystrophies (2003) (96)
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool (2017) (96)
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. (2004) (95)
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene (2001) (93)
Diagnosis and new treatments in muscular dystrophies (2009) (93)
Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. (2011) (93)
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2011) (93)
Core myopathies. (2011) (92)
Deletions in the 5' region of dystrophin and resulting phenotypes. (1994) (92)
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies (2009) (91)
Muscular weakness in the mdx mouse (1993) (90)
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials (2010) (89)
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (2011) (89)
Developmental milestones in type I spinal muscular atrophy (2016) (88)
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands (2002) (88)
Congenital muscular dystrophies. (2002) (88)
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy (2015) (88)
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy (1999) (88)
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes (2005) (87)
Gene deletions in spinal muscular atrophy. (1996) (87)
Feeding problems in merosin-deficient congenital muscular dystrophy (1997) (85)
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy (2017) (85)
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain (1997) (85)
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy (1997) (84)
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. (1998) (84)
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches (2017) (84)
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. (1995) (84)
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2010) (84)
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies (2013) (84)
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands (2003) (83)
Genetic treatments in muscular dystrophies (2007) (83)
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. (1998) (82)
Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy (2016) (82)
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. (2011) (82)
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. (2008) (81)
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants (2014) (80)
Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression (2009) (80)
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy (1996) (80)
Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin (2004) (80)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations (2012) (80)
Prednisolone‐induced changes in dystrophic skeletal muscle (2005) (80)
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (2009) (80)
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial (2017) (79)
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy (2004) (79)
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy (2016) (79)
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease (2017) (79)
Assessing upper limb function in nonambulant SMA patients: Development of a new module (2011) (78)
Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. (2012) (78)
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance (2008) (78)
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. (2015) (78)
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. (2000) (78)
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort (2012) (78)
Natural history of pulmonary function in collagen VI-related myopathies. (2013) (78)
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency (1997) (77)
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands (2005) (77)
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. (2002) (77)
Nemaline myopathy caused by absence of α‐skeletal muscle actin (2007) (77)
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies (2011) (76)
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology (2017) (75)
An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy (2002) (75)
Donor Satellite Cell Engraftment is Significantly Augmented When the Host Niche is Preserved and Endogenous Satellite Cells are Incapacitated (2012) (75)
Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice (2011) (74)
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene (2006) (74)
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies (1997) (74)
Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research (2002) (74)
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene (2005) (73)
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy (2017) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study (2006) (72)
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy (2013) (71)
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. (1998) (71)
Congenital myopathies (2015) (70)
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation (2000) (70)
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement (2012) (70)
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2013) (70)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype (2003) (69)
Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle (2003) (69)
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. (2015) (68)
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period (2017) (67)
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency (2005) (67)
Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. (2007) (67)
Muscular dystrophy: new challenges and review of the current clinical trials (2013) (66)
Fatal infantile neuromuscular presentation of glycogen storage disease type IV (2004) (65)
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. (2014) (65)
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. (1998) (65)
BAG3 mutations: another cause of giant axonal neuropathy (2012) (65)
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. (2006) (65)
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies (2008) (65)
Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. (1995) (65)
Prevalence of congenital muscular dystrophy in Italy (2015) (65)
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation (2013) (65)
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. (2008) (64)
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. (2016) (64)
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases (2014) (63)
168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT) (2010) (62)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (62)
Nebulin mutations in autosomal recessive nemaline myopathy: an update (2002) (62)
Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome (2007) (61)
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study (2020) (61)
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease (2011) (61)
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy (2013) (61)
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. (2016) (61)
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009 (2010) (60)
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia (2004) (60)
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. (2006) (59)
Human Skeletal Muscle-derived CD133+ Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice. (2014) (58)
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. (2002) (58)
Minicore myopathy in children: a clinical and histopathological study of 19 cases (2000) (58)
Necroptosis mediates myofibre death in dystrophin-deficient mice (2018) (58)
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy (2020) (58)
Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. (2002) (58)
Early neurodevelopmental assessment in Duchenne muscular dystrophy (2013) (58)
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there (2016) (58)
Muscular dystrophies due to defective glycosylation of dystroglycan. (2007) (57)
Pontocerebellar hypoplasia type 1 (2013) (57)
Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study. (1999) (57)
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan (2003) (57)
Spinal muscular atrophy — insights and challenges in the treatment era (2020) (56)
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia (2010) (56)
MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet (2007) (55)
Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 (2012) (55)
Improvement of Pulmonary Function in Children With Early-Onset Scoliosis Using Magnetic Growth Rods (2014) (55)
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial (2021) (55)
Cardiac involvement in muscular dystrophies: Molecular mechanisms (2005) (55)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (55)
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations (2013) (55)
Stress-induced insomnia: opioid-dopamine interactions. (1987) (54)
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. (2016) (54)
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments (1994) (54)
Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction? (1999) (54)
Pilot trial of albuterol in spinal muscular atrophy. (2002) (54)
HLA‐DQB1 genotype in Sardinian multiple sclerosis (1992) (54)
Stem cells to treat muscular dystrophies – Where are we? (2011) (54)
Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy. (2000) (53)
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression (2018) (53)
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency (2003) (53)
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. (1998) (53)
Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy (1997) (52)
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions (2004) (52)
Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response. (2015) (51)
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy (2005) (51)
Revised upper limb module for spinal muscular atrophy: 12 month changes (2019) (50)
Clinical features of the myasthenic syndrome arising from mutations in GMPPB (2016) (50)
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies (2001) (50)
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing (2013) (50)
195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14–16th December, 2012, Naarden, The Netherlands (2013) (50)
SEPN1-related myopathies (2011) (50)
Pilot trial of salbutamol in central core and multi-minicore diseases. (2004) (49)
Mature Adult Dystrophic Mouse Muscle Environment Does Not Impede Efficient Engrafted Satellite Cell Regeneration and Self‐Renewal (2009) (49)
Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy (2019) (49)
POMT2 mutation in a patient with ‘MEB-like’ phenotype (2006) (48)
Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy (2016) (48)
Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene (2009) (48)
Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials (2010) (47)
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. (2015) (47)
X-inactivation patterns in carriers of X-linked myotubular myopathy (2003) (47)
Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle (2010) (47)
Therapeutic approaches for spinal muscular atrophy (SMA) (2017) (47)
What's new in neuromuscular disorders? The congenital myopathies. (2003) (47)
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients (2014) (46)
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients (2020) (46)
Blood loss in Duchenne muscular dystrophy: vascular smooth muscle dysfunction? (1999) (46)
Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment (2016) (46)
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials (2016) (46)
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion (2003) (46)
Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency (2002) (46)
MRI in sarcoglycanopathies: a large international cohort study (2017) (46)
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling (2013) (46)
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis (1995) (46)
Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. (2012) (45)
The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. (2015) (45)
Managing clinically significant findings in research: the UK10K example (2014) (45)
Natural history of Charcot‐Marie‐Tooth disease during childhood (2017) (45)
Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy (1996) (45)
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (2007) (45)
Lentiviral vectors can be used for full-length dystrophin gene therapy (2017) (44)
Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping. (2011) (44)
Design principles for bifunctional targeted oligonucleotide enhancers of splicing (2011) (44)
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. (2012) (44)
Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy (1998) (44)
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation (2003) (44)
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. (1995) (43)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017) (43)
Diagnosis and new treatments in muscular dystrophies. (2009) (43)
60th ENMC International Workshop: Non X-linked Emery–Dreifuss Muscular Dystrophy, 5–7 June 1998, Naarden, The Netherlands (1999) (42)
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2015) (42)
Rational design of antisense oligomers to induce dystrophin exon skipping. (2009) (42)
Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study (2013) (42)
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy (2019) (42)
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. (2004) (42)
Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy (2016) (41)
The contribution of human synovial stem cells to skeletal muscle regeneration (2009) (41)
Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. (2002) (41)
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 (2019) (41)
Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK (2006) (40)
DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children (2013) (40)
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance (1998) (40)
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia (2017) (40)
Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy (1998) (40)
Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. (2006) (40)
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy (2014) (40)
218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016 (2017) (40)
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. (2006) (39)
Functional effects of mutations identified in patients with Multiminicore disease (2007) (39)
Epilepsy in Duchenne and Becker muscular dystrophies. (1997) (39)
Bone mineral density in a paediatric spinal muscular atrophy population. (2004) (39)
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome (2000) (39)
Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. (2010) (39)
Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies (2018) (39)
Dystrophin quantification (2014) (38)
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy (2016) (38)
Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy (2015) (38)
Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne’s muscular dystrophy: relationship to clinical outcome (2005) (38)
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy (2001) (38)
MYO-MRI diagnostic protocols in genetic myopathies (2019) (38)
Is a muscle biopsy in Duchenne dystrophy really necessary? (2001) (38)
Prenatal diagnosis in congenital muscular dystrophy (1995) (37)
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. (2010) (37)
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study (2004) (37)
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy (2020) (37)
Respiratory muscle training in Duchenne muscular dystrophy. (1989) (37)
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system (2015) (37)
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (2009) (37)
Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Largemyd Mouse (2012) (37)
128th ENMC International Workshop on ‘Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy’ 22–24 October 2004, Naarden, The Netherlands (2005) (37)
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype (2013) (36)
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine (2014) (36)
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. (1997) (36)
Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology (2019) (36)
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. (2003) (35)
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy (2014) (35)
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. (2003) (35)
Can clinical signs identify newborns with neuromuscular disorders? (2005) (35)
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. (2014) (35)
Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study (1997) (35)
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. (2014) (35)
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency (2012) (35)
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I (2005) (34)
Cardiac Complications of Childhood Myopathies (2003) (34)
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. (1995) (33)
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness (2020) (33)
The effect of the muscle environment on the regenerative capacity of human skeletal muscle stem cells (2015) (33)
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility (2018) (33)
Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study. (2006) (33)
HLA‐DQA1 and ‐DQB1 associations with multiple sclerosis in Sardinia and French Canada (1993) (33)
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities (2016) (33)
Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1? (1997) (33)
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I (2002) (33)
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations (2016) (33)
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial (2022) (32)
Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands (2002) (32)
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy. (2000) (32)
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy. (1997) (32)
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial (2022) (32)
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome (2016) (32)
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. (1993) (32)
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (2013) (31)
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation (2010) (31)
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype (2011) (31)
Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers (2005) (31)
Qualification opinion on stride velocity 95th centile as a secondary endpoint in Duchenne Muscular Dystrophy measured by a valid and suitable wearable device (2019) (31)
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016 (2016) (31)
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome (1999) (31)
Journey into muscular dystrophies caused by abnormal glycosylation. (2004) (30)
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. (2020) (30)
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies (2016) (30)
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry (2004) (30)
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status (1999) (30)
Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study (2019) (30)
66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands (1999) (30)
Fracture prevalence in Duchenne muscular dystrophy (2002) (30)
82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands (2002) (30)
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. (2013) (29)
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy (2016) (29)
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability (2015) (29)
Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? (2007) (29)
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. (1999) (29)
Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype (1997) (28)
Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle (1999) (28)
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. (2011) (28)
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE) (2003) (28)
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. (1998) (28)
Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia (2013) (27)
Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. (2017) (27)
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. (2001) (27)
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA (2001) (27)
85th ENMC International Workshop on Congenital Muscular Dystrophy 6th International CMD Workshop 1st Workshop of the Myo-Cluster Project ‘GENRE’27–28th October 2000, Naarden, The Netherlands (2002) (27)
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (2015) (27)
Current perspective new insights into the molecular basis of familial dilated cardiomyopathy. (2001) (27)
Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis. (1993) (27)
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial (2021) (26)
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands (2002) (26)
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy (2020) (26)
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy (2017) (26)
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. (2019) (26)
Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain (2011) (26)
A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A (1997) (26)
Clinical Variability in Spinal Muscular Atrophy Type III (2020) (26)
Muscle development genes: their relevance in neuromuscular disorders (2002) (26)
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus (2007) (25)
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands (2004) (25)
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. (2019) (25)
Noncoding RNAs and Duchenne muscular dystrophy. (2016) (25)
UK physicians’ attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy (2006) (25)
Genetic therapies for inherited neuromuscular disorders. (2018) (25)
204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands (2015) (25)
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue (2021) (25)
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. (2003) (25)
The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss (2002) (25)
Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. (2003) (25)
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. (2005) (25)
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement (2020) (25)
Bi‐allelic mutations in MYL1 cause a severe congenital myopathy (2018) (25)
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: “Translating“ the Translational (2013) (25)
182nd ENMC International Workshop: RYR1-related myopathies, 15–17th April 2011, Naarden, The Netherlands (2012) (24)
Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A (1999) (24)
Muscular Dystrophy Campaign sponsored workshop: Recommendation for Respiratory Care of Children with Spinal Muscular Atrophy Type II and III. 13th February 2002, London, UK (2003) (24)
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy (2019) (24)
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet (2019) (24)
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. (2018) (24)
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism (2019) (24)
Early onset, autosomal recessive muscular dystrophy with Emergy-Dreifuss phenotype and normal emerin expression (1998) (24)
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation (2012) (24)
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. (2000) (24)
The risks of therapeutic misconception and individual patient (n =1) “trials” in rare diseases such as Duchenne dystrophy (2011) (24)
Dystrophinopathies and Limb-Girdle Muscular Dystrophies (2017) (23)
Development of an academic disease registry for spinal muscular atrophy (2019) (23)
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. (2004) (23)
194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8–10 December 2012, Naarden, The Netherlands (2013) (23)
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (2020) (23)
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. (2011) (23)
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy (2005) (23)
X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping (2000) (23)
Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers (2010) (23)
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? (2000) (23)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets (2013) (22)
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy (1997) (22)
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. (2015) (22)
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy (2019) (22)
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (2004) (22)
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores (2020) (22)
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen (2021) (21)
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy (2021) (21)
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening (2012) (21)
Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene (2012) (21)
173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands (2011) (21)
Genotype–phenotype correlations in recessive titinopathies (2020) (21)
Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap (1996) (21)
Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017 (2018) (21)
Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss (20)
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy (1997) (20)
Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. (1995) (20)
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy (2020) (20)
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study (2020) (20)
149th ENMC International Workshop and 1st TREAT-NMD Workshop on: “Planning Phase I/II Clinical trials using Systemically Delivered Antisense Oligonucleotides in Duchenne Muscular Dystrophy” (2008) (20)
Glycosylation eases muscular dystrophy (2004) (20)
Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization. (2013) (20)
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. (2017) (20)
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy (2016) (19)
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy (2019) (19)
Syncoilin upregulation in muscle of patients with neuromuscular disease (2005) (19)
Seven cases of Pompe disease from Greece (2006) (19)
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (2008) (19)
Inherited disorders of the extracellular matrix. (1999) (19)
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA (2020) (19)
The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. (1998) (19)
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. (2009) (18)
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study (2020) (18)
History of the disease (2015) (18)
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2) (2000) (18)
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. (1997) (18)
Dystrophin immunoreactivity in normal and duchenne human fetal neurons in culture (1992) (18)
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy (2012) (18)
Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. (2016) (18)
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne (2017) (18)
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy (2012) (18)
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier (1992) (18)
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms (2017) (18)
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development (2019) (18)
Dystrophin and the brain (2011) (18)
Expression of HLA Class I Antigens in Skeletal Muscle Is a Diagnostic Marker in Juvenile Dermatomyositis (1997) (18)
Golodirsen Induces Exon Skipping Leading to Sarcolemmal Dystrophin Expression in Duchenne Muscular Dystrophy Patients With Mutations Amenable to Exon 53 Skipping (S22.001) (2018) (17)
Muscle MRI in FHL1-linked reducing body myopathy (2009) (17)
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular–eye–brain loci: report of three siblings (2001) (17)
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy (2018) (17)
Multiple exon skipping strategies to by-pass dystrophin mutations (2012) (17)
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot‐Marie‐Tooth disease (2013) (17)
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis (2019) (17)
Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement (2001) (17)
1st Workshop on Upper-Extremity Assistive Technology for People with Duchenne: State of the art, emerging avenues, and challenges April 27th 2015, London, United Kingdom (2016) (17)
X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. (1992) (17)
Making sense of missense variants in TTN-related congenital myopathies (2021) (17)
A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission (2004) (17)
CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability (2018) (17)
Balance impairment in pediatric charcot–marie–tooth disease (2016) (17)
RNA-targeted drugs for neuromuscular diseases (2020) (16)
Assessing non-Mendelian Inheritance in Inherited Axonopathies (2020) (16)
Steroids in Duchenne muscular dystrophy (2013) (16)
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1) (2015) (16)
Limitation of eye movement in merosin-deficient congenital muscular dystrophy (1999) (16)
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples (2018) (16)
133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21–23 January 2005, Naarden, The Netherlands (2005) (16)
Gain and loss of abilities in type II SMA: A 12-month natural history study (2020) (16)
Longitudinal natural history in young boys with Duchenne muscular dystrophy (2019) (16)
A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan (2019) (16)
Duchenne muscular dystrophy presenting with failure to thrive. (1995) (16)
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study (2018) (16)
Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial (2022) (16)
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy (2021) (16)
C.O.4 Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy (2007) (16)
Congenital myopathies (2008) (16)
SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder (2015) (16)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies (2019) (16)
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort (2020) (15)
Challenges of clinical trial design for DMD (2015) (15)
Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related (1997) (15)
Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies (2021) (15)
Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations (2010) (15)
Lentiviral vectors can be used for full-length dystrophin gene therapy (2017) (15)
Differential diagnosis of congenital muscular dystrophies. (2008) (15)
Multiple roles of integrin-α3 at the neuromuscular junction (2017) (15)
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (2018) (15)
Immunolocalization of several laminin chains in the normal human central and peripheral nervous system. (1997) (15)
Magnetic resonance imaging assessment of infantile myofibromatosis. (2002) (15)
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 (2005) (15)
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy (2018) (15)
Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies (2017) (15)
The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies. (2005) (14)
Mural cells paint a new picture of muscle stem cells (2007) (14)
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy (2022) (14)
Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies (2013) (14)
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function (2018) (14)
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy (2020) (14)
Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective (2019) (14)
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands (2016) (14)
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy (2021) (14)
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures (2018) (14)
G.P.12.08 Zebra body myopathy resolved (2009) (14)
Muscle metabolic alterations assessed by 31‐phosphorus magnetic resonance spectroscopy in mild becker muscular dystrophy (2011) (14)
Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle (1989) (14)
Human skeletal muscle-derived CD133(+) cells form functional satellite cells after intramuscular transplantation in immunodeficient host mice. (2014) (14)
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. (1998) (13)
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. (2020) (13)
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. (2003) (13)
150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands (2008) (13)
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients (2021) (13)
Zebra body myopathy resolved (2009) (13)
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide (2017) (13)
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients (2018) (13)
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10 (2012) (13)
Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility. (1991) (13)
Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK (2010) (13)
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy (2020) (13)
The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population. (1992) (13)
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design (2020) (13)
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. (2012) (13)
Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants (2014) (13)
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy (2001) (13)
Familial cardiac and skeletal myopathy associated with desmin accumulation (1994) (13)
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity (2020) (13)
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. (2013) (12)
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects (2018) (12)
Central core disease: new findings in an old disease. (2003) (12)
The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant. (2011) (12)
Rimeporide as a ﬁrst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy (2020) (12)
Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy (2000) (12)
Antisense suppression of donor splice site mutations in the dystrophin gene transcript (2013) (12)
Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial (2017) (11)
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th–10th February 2008 Naarden, The Netherlands (2009) (11)
A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene. (2002) (11)
Congenital muscular dystrophies: What is new? (2021) (11)
Genomic and transcription studies as diagnostic tools for a prenatal detection of X‐linked dilated cardiomyopathy due to a dystrophin gene mutation (2005) (11)
OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation? (2004) (11)
International retrospective natural history study of LMNA-related congenital muscular dystrophy (2021) (11)
Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review (2019) (11)
Evolution of abnormal postures in Duchenne muscular dystrophy (2007) (11)
Cardiorespiratory progression over 5 years and role of corticosteroids in DMD: a single site retrospective longitudinal study. (2020) (11)
Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood (2019) (11)
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement (2019) (11)
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial (2020) (11)
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? (2016) (11)
226th ENMC International Workshop: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands (2018) (11)
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan (2020) (11)
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019 (2020) (10)
Different trajectories in upper limb and gross motor function in spinal muscular atrophy (2021) (10)
Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy (2020) (10)
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation (2016) (10)
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy (2007) (10)
Recent developments in the management of Duchenne muscular dystrophy (2008) (10)
The human desmin promoter drives robust gene expression for skeletal muscle stem cell-mediated gene therapy. (2014) (10)
The management of Duchenne muscular dystrophy (2002) (10)
Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing. (2000) (10)
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy (2015) (9)
90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands (2002) (9)
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials (2020) (9)
Diaphragmatic spinal muscular atrophy with bulbar weakness. (2000) (9)
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients (2018) (9)
Skin changes in Ullrich congenital muscular dystrophy (2008) (9)
Restoration of functional full-length dystrophin after intramuscular transplantation of Foamy Virus-transduced myoblasts. (2019) (9)
Merosin-positive congenital muscular dystrophy: a large inbred family. (1999) (9)
Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384) (2020) (9)
Congenital muscular dystrophy (1998) (9)
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies (2020) (9)
Responsiveness to ‘autoreceptor’ doses of apomorphine is inversely correlated with the firing rate of dopaminergic A9 neurons: Action of baclofen (1986) (9)
An unusual case of hyperekplexia. (2000) (9)
Long-term bene fi ts and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy (2013) (9)
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (2004) (9)
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect? (2001) (9)
Overexpressed human survival motor neurone isoforms, SMNΔexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution (2001) (9)
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD (2020) (9)
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections (2021) (9)
Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. (2008) (9)
Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials (2018) (8)
O.16 Current progress and preliminary results with the systemic administration trial of AVI-4658, a novel phosphorodiamidate morpholino oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD) (2010) (8)
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy (2022) (8)
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations (2020) (8)
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. (2019) (8)
Stakeholder collaboration for spinal muscular atrophy therapy development (2017) (8)
Severe persistent injection site reactions after subcutaneous 2′-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy (2017) (8)
Peripheral neuropathy--a novel finding in dyskeratosis congenita. (2005) (8)
Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: A possible sequel of drug toxicity in first trimester of pregnancy? (1995) (7)
Therapeutic Aspects in Congenital Myopathies. (2019) (7)
D01 Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in patients with genetic mutations amenable to exon 53 skipping (2018) (7)
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients (2020) (7)
Alternative splicing of dystrophin exon 4 in normal human muscle (1996) (7)
G.O.19 Results of a phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3–25 years old spinal muscular atrophy patients (2014) (7)
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019 (2020) (7)
Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging. (2016) (7)
CONGENITAL MUSCULAR DYSTROPHIES P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain (2020) (7)
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling (1993) (7)
A Dystrophin‐Immunoreactive Protein in Mammalian Brain (1993) (7)
NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project. (2018) (7)
Response to “Railroading at the FDA” (2017) (7)
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy (2021) (7)
Introduction to Duchenne muscular dystrophy (2015) (7)
Dystrophin deficiency affects human astrocyte properties and response to damage (2021) (7)
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen (2022) (6)
ASPIRO Gene Therapy Trial In X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Safety And Efficacy Findings up to 72 Weeks Post-Treatment (1053) (2020) (6)
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy (2021) (6)
Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy (2022) (6)
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy (2022) (6)
Old measures and new scores in spinal muscular atrophy patients (2015) (6)
Response to Buratti et al.: Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? (2003) (6)
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses (2019) (6)
Ambulatory function and fatigue in nusinersen-treated children with spinal muscular atrophy. (P2.322) (2018) (6)
Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes (2014) (6)
Skeletal muscle involvement in infantile systemic hyalinosis. (2003) (6)
Is there post-natal muscle growth in amyoplasia? A sequential MRI study (2009) (6)
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy (2018) (6)
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. (1998) (6)
T.O.3 Restoration of dystrophin expression in Duchenne muscular dystrophy: A single blind, placebo-controlled dose escalation study using morpholino oligomer AVI-4658 (2009) (6)
Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502] (2021) (6)
Preventive nasal ventilation in Duchenne muscular dystrophy (1994) (6)
Toxic effect of intraventricular interferon-alpha in subacute sclerosing panencephalitis (2006) (5)
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen (2021) (5)
Paediatric neurology: from molecular mechanisms to targeted treatments (2015) (5)
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes (2021) (5)
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 (2020) (5)
Clinical analysis of 32 patients carrying R453W LMNA mutation (2002) (5)
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy (2022) (5)
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients (2021) (5)
P11 UK NorthStar Neuromuscular Clinical Network (NSCN): National audit results in Duchenne muscular dystrophy (DMD) corticosteroid practice, vitamin D status and bone health (2010) (5)
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up (2021) (5)
T.P.1.07 Egen classification revisited in SMA (2008) (5)
Emotional impact of a paediatric exon‐skipping therapy trial (2011) (5)
Efficacy of idebenone in Duchenne muscular dystrophy (2015) (5)
The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy (2021) (5)
42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies 21–23 June 1996, Naarden, The Netherlands (1997) (5)
Multiple roles of integrin-alpha 3 at the neuromuscular junction (2017) (5)
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study (2021) (5)
Two novel mutations (10410 T→G; 10296 del C) at carboxy‐terminus of the dystrophin gene associated with mental retardation (1998) (5)
Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. (2000) (5)
Profound Skeletal Muscle Depletion of α-Dystroglycan in Walker-Warburg Syndrome (2003) (5)
Considerations for Systemic Use of Gene Therapy. (2021) (5)
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. (2004) (5)
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping (2020) (5)
Clinical utility gene card for: Central core disease (2011) (5)
Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling (2022) (4)
The protein defect in congenital muscular dystrophy. (1996) (4)
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency (2021) (4)
P097 A new locus for an autosomal recessive congenital muscular dystrophy without brain involvement maps to chromosome 7p21 (2009) (4)
Identification of a novel T-insertion polymorphism at the DMD locus (1993) (4)
G.P.300 Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy (2015) (4)
Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy (2020) (4)
O.28Safety and tolerability of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy: results from a phase 1 clinical trial (2019) (4)
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls (2022) (4)
Results of North Star Ambulatory Assessments (NSAA) in the Phase 3 Ataluren Confirmatory Trial in Patients with Nonsense Mutation Duchenne Muscular Dystrophy (ACT DMD) (I15.008) (2016) (4)
Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy (2017) (4)
Erratum: Characterization of recessive RYR1 mutations in core myopathies (Human Molecular Genetics (2006) vol. 15 (2791-2803) 10.1093/hmg/ddl221) (2007) (4)
PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY (1995) (4)
P.398 Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers (2017) (4)
A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family. (1996) (4)
P.403 PhaseOut DMD: a Phase 2, proof of concept, clinical study of utrophin modulation with ezutromid (2017) (4)
P.27 Association study of exome variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy (2016) (4)
Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy (2021) (4)
Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice (2018) (4)
PHENOTYPE-GENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF HERITABLE NEUROPATHIES CAUSED BY MUTATIONS IN THE MYELIN PROTEIN ZERO GENE (2015) (4)
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder (2022) (4)
Chapter 31 Immunopathology and molecular genetics of dystrophinopathies (2004) (4)
P67 SEPN1 related myopathies: Clinical course in a large cohort of patients (2011) (4)
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. (2004) (4)
PRO22 A Real World Study Investigating the Resource Use and Burden Associated with Spinal Muscular Atrophy (SMA) from the Perspective of Patients and Carers in the UK (2020) (4)
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy (2020) (4)
Dystrophin and dystrophin-like proteins in muscle and brain of normal and mdx mice. (1990) (4)
Perinatal dyskinesia as a presenting feature in Prader Willi syndrome. (2009) (4)
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs (2021) (4)
Occipito-temporal polymicrogyria and subclinical muscular dystrophy. (2003) (4)
INTRAVENTRICULAR ALPHA -INTERFERON IN SUBACUTE SCLEROSING PANENCEPHALITIS.AUTHORS' REPLY (1998) (4)
G.P.128 Upper limb muscle MRI fat–water quantification and clinical functional correlation in non-ambulant Duchenne muscular dystrophy (2014) (3)
P3.31 Congenital myopathies – clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experience (2011) (3)
P.223Respiratory function in SMA type 2 and non-ambulant SMA type 3, longitudinal data from the international SMA consortium (iSMAc) (2019) (3)
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition (2022) (3)
Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype (2021) (3)
EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009–2011: FINAL RESULTS AND RECOMMENDATIONS (2013) (3)
Refinement of the laminin a2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy (3)
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS (2020) (3)
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? (1999) (3)
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy (2022) (3)
Inducing muscle hypertrophy as a therapeutic strategy for muscular dystrophies. 122nd ENMC International Workshop, Naarden, The Netherlands, 28–30 November 2003 (2004) (3)
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned? (1999) (3)
SMA – THERAPY P.258 Onasemnogene aveparvovec gene therapy for spinal muscular atrophy type 1 (SMA1): Phase 3 study update (STR1VE-EU) (2020) (3)
G.P.23 Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy (2015) (3)
P.381 Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA) (2017) (3)
P17 Whole exome sequencing in patients with congenital myopathies (2014) (3)
DMD & BMD – CLINICAL P.55 Prognostic factors for loss of ability to rise from supine in Duchenne muscular dystrophy (DMD) (2020) (3)
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients (2011) (3)
Detection of pathogenic splicing events from RNA-sequencing data using dasper (2021) (3)
Immunological Parameters in Subacute Sclerosing Panencephalitis and the Effect of Intraventricular Interferon (1990) (3)
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings (2022) (3)
MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (1995) (3)
Rimeporide in patients with Duchenne Muscular Dystrophy (2017) (3)
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 (2019) (3)
Clinical utility gene card for: Multi-minicore disease (2011) (3)
Whole-genome sequencing and the clinician: a tale of two cities (2014) (3)
Egen classification revisited in SMA (2008) (3)
G.P.4.06 Daily salbutamol in young patients with SMA type II (2008) (3)
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. (2015) (3)
EC.O.7 Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophy (2017) (3)
C.O.6 Selenoprotein N, mutated in SEPN-related myopathy, protects human cells against oxidative stress (2007) (3)
2FC2.3 Salbutamol treatment in children with DOK7 congenital myasthenic syndrome (2011) (3)
ECEL 1 gene related contractural syndrome : long-term follow-up and update on clinical and pathological aspects (2018) (3)
Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy (1997) (3)
Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment (2021) (3)
A Long-Term, Open-Label Follow-Up Study of Olesoxime in Patients with Type 2 or Non-Ambulatory Type 3 Spinal Muscular Atrophy who Participated in a Placebo-Controlled Phase 2 Trial (S46.002) (2018) (3)
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders (2020) (3)
Preventing cardiomyopathy in DMD: A randomized, placebo-controlled drug-trial (2020) (3)
Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications (2022) (3)
The Second Congress of the European Paediatric Neurology Society: Maastricht 8-11 October 1997. (1998) (3)
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy. (2020) (2)
P.20.15 Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy (2013) (2)
A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan (2001) (2)
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. (2020) (2)
P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling (2014) (2)
P81 Benefits and adverse effects of glucocorticoids in boys with Duchenne muscular dystrophy: a UK perspective (2011) (2)
P.270Association between plasma phosphorylated neurofilament heavy chain and efficacy endpoints in the nusinersen NURTURE study (2019) (2)
Corrigendum: Survival Motor Neuron (SMN) protein is required for normal mouse liver development (2016) (2)
2FC2.6 Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy: A UK perspective (2011) (2)
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation (2021) (2)
Walker–Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin (2005) (2)
G.P.154 Mutations in ECEL1 lead to distal arthrogryposis type 5D (2014) (2)
Gene table: congenital muscular dystrophies. (2002) (2)
Disorders of glycosylation: an emerging group of muscular dystrophies (2002) (2)
New Perspectives on the Diagnosis and Management of Duchenne Muscular Dystrophy (2015) (2)
P.455 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trials (2017) (2)
D11 Myostatin inhibition for neuromuscular disorders: defining the good candidate (2017) (2)
A case presenting with delayed motor milestones (2005) (2)
G.P.9.05 The role of ACE inhibitor therapy in presymptomatic cardiomyopathy in Duchenne muscular dystrophy (2007) (2)
SMA – THERAPY P.260 Onasemnogene abeparvovec gene therapy in presymptomatic spinal muscular atrophy (SMA): SPR1NT study update (2020) (2)
Novel forms of muscular dystrophy with alpha-dystroglycan deficiency and absent CNS involvement (2003) (2)
Familial dilated cardiomyopathy with subclinical skeletal muscle involvement (1996) (2)
P2.14 The versatility of flow cytometry in the assessment of functional alpha-dystroglycan glycosylation (2011) (2)
BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy (2011) (2)
240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands (2019) (2)
A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment (2022) (2)
Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy (2005) (2)
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy (2023) (2)
P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment (2011) (2)
Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial. (2021) (2)
Growth pattern trajectories in boys with Duchenne muscular dystrophy (2022) (2)
Results of North Star Ambulatory Assessments in the Phase 3 Ataluren Confirmatory Trial in Patients with Nonsense Mutation Duchenne Muscular Dystrophy (ACT DMD) (2016) (2)
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model (2022) (2)
Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Phase 1b Clinical Trial Results of SMT C1100 (P2.006) (2015) (2)
Morpholino-Mediated Exon Inclusion for SMA. (2018) (2)
Mutation in BAG3 defines severe novel muscular dystrophy of childhood (2008) (2)
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead (2020) (2)
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood (2020) (2)
Program and abstracts for the 2012 Joint Meeting of the Society for Glycobiology & American Society for Matrix Biology (2012) (2)
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy (2022) (2)
Visual evoked potentials in ON-pathway disorders (2015) (2)
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. (2022) (2)
P.146Novel high-throughput digital analysis to quantify the amount of functional sarcolemmal dystrophin and myofibre regeneration in Duchenne muscular dystrophy clinical trial samples (exon 53 skipping with golodirsen) (2019) (2)
P01 Current progress with the systemic administration trial of AVI-4658, a novel Phosphorodiamidate Morpholino Oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD) (2010) (2)
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy (2021) (2)
P.145Optimisation of a high–throughput digital script for multiplexed immunofluorescent analysis of sarcolemmal dystrophin - associated protein complex (DPC) and myofibre regeneration in entire transverse sections of muscle biopsies in Duchenne muscular dystrophy (2019) (2)
Neurological problems in the newborn (2012) (2)
Phosphorylated neurofilament heavy chain (PNF-H) and motor function achievement in nusinersen-treated individuals with spinal muscular atrophy (SMA) (2019) (2)
P4.5 Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular Dystrophy (2011) (2)
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (2)
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. (2004) (2)
P.439 Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeutics (2017) (1)
P.2.1 The NorthStar Ambulatory Assessment in Duchenne Muscular Dystrophy: Considerations for the design of clinical trials (2013) (1)
G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies (2012) (1)
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab (2022) (1)
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (2020) (1)
In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis (2017) (1)
P35 Upper limb muscle fat-water quantification MRI in non-ambulant Duchenne muscular dystrophy (2014) (1)
Involvement of tissues other than skeletal muscle (2015) (1)
3FC2.2 Muscle MRI in congenital myopathies due to Ryanodine receptor type 1 (RYR1) gene mutations (2011) (1)
Preservation of Function over time as Measured by North Star Ambulatory Assessment in Ambulatory Boys with Nonsense Mutation Muscular Dystrophy Treated with Ataluren (S51.004) (2019) (1)
Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy (1997) (1)
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects (2021) (1)
Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses (2019) (1)
DMD CLINICAL THERAPIES II P.132Identification of developmental myosin positive fibres acts both as a clinical biomarker for muscle disease and an important component of the process to confirm ezutromid target engagement (2018) (1)
A point mutation in the 5′ splice site of the first intron of the dystrophin gene responsible for X-linked dilated cardiomyopathy (1996) (1)
P1.33 Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy (2011) (1)
NEW GENES IN NEUROMUSCULAR DISEASES O.04 Heterozygous frameshift variants in hnRNPA2B1 cause a novel oculopharyngodistal muscular dystrophy (2020) (1)
Correspondence: Measuring dystrophin—faster is not necessarily better (2012) (1)
Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan (2013) (1)
P.467 A clinical update on the eNHANCE project: Eye tracking control for reaching and grasping in an adolescent Duchenne muscular dystrophy (DMD) population (2017) (1)
HLA AND MS. AUTHOR'S REPLY (1993) (1)
The clinicopathological spectrum of a brain and muscle disorder due to loss-of-function mutations in MICU1 (2017) (1)
Overcoming pharmacokinetic challenges to drug administration in Duchenne muscular dystrophy: Lessons from Phase 1 development of ezutromid (2017) (1)
Double lamin-emerin and lamin-desmin trouble (2005) (1)
D41 Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients (2018) (1)
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) (2011) (1)
CHAPTER 86 – THE CONGENITAL MYOPATHIES (2007) (1)
DMD – THERAPY P.283 Long-term safety and efficacy of golodirsen in male patients with Duchenne muscular dystrophy amenable to Exon 53 skipping (2020) (1)
Multiple roles of integrin-α3 at the neuromuscular junction (2017) (1)
TWO YEAR NATURAL HISTORY OF DISEASE PROGRESSION IN CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE (2013) (1)
Effect of Ataluren on Age at Loss of Ambulation in Nonsense Mutation Duchenne Muscular Dystrophy: Observational Data from the STRIDE Registry (2019) (1)
P.25 A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy (2017) (1)
What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy. (2001) (1)
S.P.19 Using the Motor Function Measure (MFM) in the assessment of children with Charcot–Marie–Tooth (CMT)1A; strengths and limitations (2012) (1)
DMD & BMD – CLINICAL P.59 Functional progression in young DMD (2020) (1)
C.P.3.06 Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies (2007) (1)
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy (2022) (1)
P.1 Clustering trajectories of ambulatory function in the North Star clinical network database (2017) (1)
Generalized calcification in a case of dermatomyositis (2000) (1)
Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases (2020) (1)
T.P.37 Old measures and new analysis in non ambulant SMA patients (2014) (1)
P.220 Results of North Star ambulatory assessments in the phase 3 ataluren confirmatory trial in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) (2016) (1)
Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity (2001) (1)
Mutations in the fukutin-related-protein gene (FKRP) in two patients with congenital muscular dystrophy 1C (MDC1C), mental retardation and cerebellar cysts (2002) (1)
Erratum: Lentiviral vectors can be used for full-length dystrophin gene therapy (2017) (1)
Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy (2022) (1)
P91 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling and induces the second calcium release system via IP3R (2012) (1)
A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy [Abstract] (2001) (1)
P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study (2013) (1)
P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death (2019) (1)
T.O.1 Cyclosporin A as a potential treatment for collagen VI-related muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue (2008) (1)
A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism (2019) (1)
THE CHARCOT-MARIE-TOOTH (CMT) DISEASE INFANT-TODDLER SCALE: DEVELOPING SCORING SYSTEM AND PILOT STUDY TESTING THE ABILITY OF THE SCALE TO ASSESS DISEASE SEVERITY IN INFANTS, TODDLERS AND SEVERELY AFFECTED CHILDREN WITH CMT (2013) (1)
MND03 The use of nusinersen in the “real world”: the UK and Ireland experience with the expanded access program (EAP) (2018) (1)
C.P.3.15 A new mouse model for dystroglycanopathies associated with mutations in FKRP (2007) (1)
Bone mineral density measurement in children with Duchenne muscular dystrophy: effect of low dose intermittent prednisolone (2003) (1)
Clinically feasible diffusion MRI in muscle: Time dependence and initial findings in Duchenne muscular dystrophy (2021) (1)
P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series (2013) (1)
Multiple sclerosis: Clinical profile in 71 cases (1992) (1)
Erratum: Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials (Brain (2011) 134 (3547-3559) DOI: 10.1093/brain/awr291) (2016) (1)
P.O.1 Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations (2006) (1)
Glucocorticoid-induced changes in the gene expression of dystrophic mouse muscle (2001) (1)
T.P.1.09 Correlation of hand-held myometry with alternative methods of assessment of muscle strength and function in DMD patients (2008) (1)
Response of plasma microRNAs to nusinersen treatment in patients with SMA (2022) (1)
Development of a novel startle response task in Duchenne muscular dystrophy (2021) (1)
G.P.162 The impact of reduced ankle range of movement on the functional abilities of patients with Duchenne muscular dystrophy (2014) (1)
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial (2022) (1)
P.148Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 (2019) (1)
T.P.1 02 A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium (2006) (1)
S.P.5 Trial readiness: Clinical interpretability of change scores of the North Star Ambulatory Assessment in Duchenne muscular dystropy (2012) (1)
P15 Flow cytometry in the assessment of functional alpha-dystroglycan glycosylation in dystroglycanopathy patient fibroblasts (2012) (1)
F Muntoni dystrophies Diagnosis and new treatments in muscular (2009) (1)
G.P.261 Whole exome sequencing in patients with congenital myopathies (2014) (1)
P.328 Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients (2016) (1)
P3.38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene (2011) (1)
[Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system]. (2002) (1)
Actazolamide to treat congenital myopathy caused by SCN4A mutation (2017) (1)
G.P.90 Dislocating patellae in children with CMT1a (2012) (1)
S.O.6 Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools (2016) (1)
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia (2020) (1)
Management of scoliosis in Duchenne muscular dystrophy: a large 10‐year retrospective study (2006) (1)
Toxic effects of interferon after intraventricular administration in subacute sclerosing panencephalitis (1992) (1)
A.P.11 The pathological spectrum of EPG5-related multisystem disorders (2014) (1)
handling abnormalities in early-onset muscle diseases: novel concepts and perspectives (2016) (1)
S.P.56 Early neurodevelopmental findings in young children with Duchenne muscular dystrophy (2012) (1)
FKRP (FuKutin Related Protein) gene mutations associated with intermediate phenotype between CMD Type 1C and LGMD2I (2002) (1)
S.P.23 Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy (2012) (1)
D.I.1 Novel Neuromuscular Diseases (2012) (1)
P.299 A single neonatal injection of an AAV9.U7snRNA virus mediating skipping of dmd exon 2 allows dystrophin expression preventing apparition of pathologic features in the Dup2 mouse one year post injection (2017) (1)
Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in Sardinian multiple sclerosis patients. (1992) (1)
REGISTRIES P.388The RESTORE registry: a resource for measuring and improving spinal muscular atrophy (SMA) outcomes (2019) (1)
L.I.3 Novel disease mechanisms in myopathies (2014) (1)
Study Design of STR1VE-EU, a Phase 3 Trial of AVXS-101 Gene-Replacement Therapy (GRT) in Patients With Spinal Muscular Atrophy Type 1 (SMA1) in Europe (2019) (1)
Genotype-phenotype correlation in Bethlem myopathy (2002) (1)
EM.P.2.01 Expression analysis of α-dystroglycan glycosyltransferases during myoblast-myotube differentiation (2009) (1)
O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysis (2011) (1)
Do alterations in laminin beta 2 localisation indicate a role of laminin-4 in congenital muscular dystrophy? (2003) (1)
Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophy (2018) (1)
Confirmation of the diagnosis (2015) (1)
Impaired strain rate measurements in patients with Duchenne muscular dystrophy (2003) (1)
Biochemical, Cellular and Electrophysiological Characterization of HMCL-7304 a Human Skeletal Muscle-Derived Cell Line (2014) (1)
Validation of the Charcot-Marie-Tooth Pediatric Scale as an Outcome Measure of Disability (P05.142) (2012) (1)
P.377 Olesoxime in patients with type 2 or non-ambulatory type 3 Spinal muscular atrophy: a placebo-controlled phase 2 trial including a long-term, open-label follow-up study (2017) (1)
P1.10 Comparative pharmacokinetics (PK) in primates and humans of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) for treating DMD patients (2011) (1)
P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM) (2019) (1)
Enlarging clinical spectrum of doparesponsive dystonia (1994) (1)
G.P.7.04 High Density-comparative genomic hybridization (HD-CGH) array as a tool to detect deep intronic mutations in the dystrophin gene (2008) (1)
HLA-DR and -DQ haplotypes in sardinian multiple sclerosis (1994) (1)
G.P.296 Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study (2015) (1)
G.O.18 Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials (2015) (1)
FKRP mutation in a patient with Walker-Warburg syndrome (2003) (1)
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay (2014) (1)
alpha-dystroglycan expression and secondary merosin deficiency (2001) (1)
Diagnosis of DMD Carrier Status in a Family with No Known Affected Males (1993) (1)
P16.4 Response to daily salbutamol in spinal muscular atrophy type III (2011) (1)
G.P.320 Phenotypic heterogeneity of the c.919T>A FKRP gene mutation in humans and a mouse model (2014) (1)
P.473 Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? (2017) (1)
Compensatory trunk movements during functional tasks in patients with Duchenne muscular dystrophy (2016) (1)
DMD CLINICAL THERAPIES I P.111Preservation of function over time as measured by North Star ambulatory assessment in boys with nonsense mutation Duchenne muscular dystrophy treated with ataluren (2018) (1)
P.325 The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project (2017) (1)
A.O.10 Movement monitoring at home and during study visits identifies sources of variability in 6MWT performance in Duchenne muscular dystrophy (2016) (1)
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES P.239Congenital titinopathy: severe and atypical presentations (2018) (1)
Exon-skipping therapy for Duchenne muscular dystrophy – Authors' reply (2012) (1)
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy (2022) (1)
RATE OF CHARCOT-MARIE-TOOTH DISEASE PROGRESSION DURING CHILDHOOD (2015) (0)
E-POSTERS – INFLAMMATORY MYOPATHIES AND MUSCULAR DYSTROPHIES – CASE REPORTS EP.14Acute muscle weakness in paediatric age masking an underlying limb girdle muscular dystrophy type 2I (2019) (0)
MRC NMD Biobank service: an overview (2010) (0)
P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies (2019) (0)
D07 Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype (2018) (0)
Cooperation among stakeholders to overcome challenges in orphan medicine development : the example of Duchenne muscular dystrophy (2016) (0)
G.P.17 Getting to the core of the matter: Cores as a common muscle pathology finding in the collagen VI-related myopathies (2012) (0)
CONGENITAL MYOPATHIES 2 P.94 RYR1-related congenital myopathy: disease course in a large paediatric cohort of UK patients (2020) (0)
P.452 Accelerating the translation of natural history into more effective clinical trial design through multi-stakeholder collaboration (2017) (0)
MATTERS ARISING (1993) (0)
The transient expression of Protein-O-Mannosyl Transferase 1 (POMT1) mutants retain their endoplasmic reticulum localisation (2006) (0)
O.10A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy (2019) (0)
Oral Poster Presentations (2011) (0)
The expression of embryonic and foetal myosin heavy chain isoforms in human muscle are useful indicators of abnormality in muscle biopsies (2014) (0)
294 Intravenous immunoglobulins in the treatment of juvenile dermatomyositis (1999) (0)
P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies (2012) (0)
P02 Human skeletal-muscle derived CD133+ cells as a promising tool for cell therapy of Duchenne muscular dystrophy (2011) (0)
A personalised genetic treatment for DMD (2007) (0)
P.P.1 07 Limitation of neck movement may be a feature of most of the childhood neuromuscular disorders (2006) (0)
P74 Improving standards of care and translational research in spinal muscular atrophy (SMA) – functional scales (2014) (0)
Phenotype and genotype of spinal muscular atrophy with respiratory distress type 1 (2003) (0)
DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS P.36Early impact on disease identified for Ezutromid using magnetic resonance spectroscopy (MRS) in Duchenne muscular dystrophy (2018) (0)
G.P.185 Assessment of a panel of antibodies to myosin heavy chains applied to human skeletal muscle biopsies (2015) (0)
S.P.1 Can the six minute walk test (6MWT) reflect deterioration in function in ambulant children with Spinal Muscular Atrophy (SMA) (2012) (0)
SEPN1 mutations cause classical multi-minicore disease: reappraising the nosology of early-onset myopathies (2002) (0)
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES P.173 Switching between disease-modifying therapies in patients with spinal muscular atrophy: real-world data collected from the RESTORE Registry (2020) (0)
P48 Integrins are required for synaptic transmission and development of the neuromuscular junction (2014) (0)
Development of NMD Gene Chips for the complete DNA diagnosis of Inherited Neuromuscular Disorders (2010) (0)
LTR1 Vectors Enhance Safety in Gene Therapy and Can Be Exploited for Rapid, Transient Gene Delivery (2017) (0)
P.329 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials (2016) (0)
Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of Congenital Muscular Dystrophies in the UK and differences with the Italian population (2015) (0)
HEREDITARY NEUROPATHIES & ALS P.117 The relationship between upper and lower limb function in a cohort of children with Charcot-Marie-Tooth (CMT) disease (2020) (0)
Development of a recombinogenic lentivirus for the delivery of full-length human dystrophin cDNA (2013) (0)
P2.12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies (2011) (0)
A DYNC1H1 mutation in autosomal dominant spinal muscular atrophy shows the potential of pharmacological inhibition of histone deacetylase 6 as a treatment for disease associated cellular phenotypes (2016) (0)
FOOT AND ANKLE SYMMETRY IN CHARCOT-MARIE-TOOTH DISEASE (2011) (0)
D17 Longitudinal neuropsychological outcomes and structural connectivity of the brain in Duchenne muscular dystrophy (2018) (0)
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy (2020) (0)
G.P.10 04 Is there a relationship between hamstring length and function in ambulant boys with Duchenne muscular dystrophy? (2006) (0)
127 ACTA1 associated myopathy with neurogenic EMG changes (2022) (0)
P8 Development of a novel approach using TALE nucleases to correct duplications in the dystrophin gene (2014) (0)
P.130 Differential expression of microRNAs in spinal muscular atrophy points towards significant peripheral organ involvement in the disease (2017) (0)
CONGENITAL MUSCULAR DYSTROPHIES P.324Clinical characteristics and long-term course of selenoprotein N1 related myopathy in a large multi-centric cohort (2018) (0)
Roles of alpha 3-integrin in development of the neuromuscular system (2012) (0)
P.440 Functional characterisation of p.Trp284Ser STAC3 mutation causing impaired excitation-contraction coupling in congenital myopathy patients (2017) (0)
S.O.3 A novel bleeding disorder associated with RYR1 mutations (2016) (0)
P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2011) (0)
P.135 First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history study (2017) (0)
Congenital muscular dystrophies (CMD). (2003) (0)
G.P.313 Intrafamilial heterogeneity in an alpha-dystroglycanopathy due to GDP-Mannose Pyrophosphorylase B (GMPPB) mutations (2014) (0)
T.I.2 Molecular therapies of Duchenne muscular dystrophy (2009) (0)
Gene expression analysis of dystrophic skeletal muscle (2002) (0)
Rehabilitation of walking in KAFO's in Duchenne muscular dystrophy: can surgical release of the TA be avoided? (2005) (0)
DMD & BMD – CLINICAL (2020) (0)
Pathological markers that can help direct molecular diagnosis of nemaline myopathy (2014) (0)
P.330 The natural history of the North Star Ambulatory Assessment (NSAA) in patients with Duchenne muscular dystrophy with skippable mutations (2016) (0)
Workshop report Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2014) (0)
Blood Loss in Duchenne Muscular Dystrophy: A Vascular Smooth Muscle Phenomenon (1999) (0)
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement (2022) (0)
G.P.10 05 Predictive factors for the development of scoliosis in Duchenne muscular dystrophy (2006) (0)
Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile (2005) (0)
DUCHENNE MUSCULAR DYSTROPHY - GENETICS P.215Genetic modifiers of Duchenne muscular dystrophy (2018) (0)
THE USE OF MULTIPLE ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - REPLY (1993) (0)
P.233The phenotypical spectrum associated with the recurrent RYR1 c.12861_ 12869dup9 (p.T4288_A4290dup) mutation (2019) (0)
SMA - CLINICAL P.90 Trunk involvement in spinal muscular atrophy type 2 and 3 (2020) (0)
G.O.2 Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy (2008) (0)
OD14 Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies (2017) (0)
Loss-of-function mutations in MICU 1 cause a brain and muscle disorder linked to primary alterations in mitochondrial Ca 2 + signalling (2013) (0)
O04 Results of a systemic antisense study in Duchenne muscular dystrophy (2010) (0)
P.248 Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis (2016) (0)
Update in Neuromuscular Disorders (2008) (0)
The phenotype associated with dystrophin exon 5 in-frame deletions relies on a splicing abnormality causing exon 6 skipping (2002) (0)
G.P.314 Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype (2014) (0)
G.P.12.02 How much dystrophin to avoid muscular dystrophy? (2007) (0)
Real-world experience of gene therapy with onasemnogene-abeparvovec (Zolgensma®) for patients with SMA-type1 in UK (2022) (0)
P03 What do MHCn and MHCd antibodies recognise? (2012) (0)
G.P.315 Cases of normal to mildly elevated creatine kinase in muscle-eye-brain disease patients and delay in diagnosis (2014) (0)
P93 MRC NMD Biobank service: an overview (2010) (0)
EM.P.2.10 Deficiency of multiple alpha dystroglycan ligand interactions underlie the phenotype of a FKRP-deficient mouse model for muscle eye brain disease (2009) (0)
P098 Fukutin mutations in Turkish and German patients with variable forms of congenital muscular dystrophy (2009) (0)
DLL4 and PDGF-BB regulate migration of human iPSC-derived skeletal myogenic progenitors (2021) (0)
P19 Low doses of antisense oligonucleotide to generate an intermediate mouse model of SMA and explore optimal timing for therapeutic intervention (2014) (0)
P.109Congenital myopathy in patients with Kabuki and Au-Kline syndromes - Double trouble or expansion of the phenotypes? (2019) (0)
D36 Genome editing to correct duplications in the dystrophin gene (2017) (0)
Multiple transcripts in the exons 47–53 region of the dystrophin gene: does this influence dystrophin expression in normal and dystrophic tissues? (1997) (0)
Victor Dubowitz (2021) (0)
P.372CSF miRNAs as biomarkers to indicate the clinical response to Spinraza treatment for patients with spinal muscular atrophy (2019) (0)
dystrophyon the management of Duchenne muscular (2008) (0)
NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY P.386A versatile, modular digital script for automated high-throughput multiparametric myofibre analysis in brightfield and epifluorescent paradigms (2018) (0)
O17 Novel insight in muscle and brain involvement in dystroglycanopathies (2011) (0)
PRO125 SUITABILITY OF NATURAL HISTORY DATA FOR EXTERNAL CONTROLS IN DUCHENNE MUSCULAR DYSTROPHY (2019) (0)
527. Exploiting Retroviral Recombination for the Delivery of Full-Length Dystrophin cDNA (2015) (0)
OD02 A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features (2018) (0)
P3.49 Myopathy associated with mutations in CHKB in three UK patients (2011) (0)
297 Early presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (1999) (0)
HETEROGENEITY OF CHARCOT-MARIE-TOOTH DISEASE SEVERITY DURING CHILDHOOD (2015) (0)
A comparison of the factors influencing the transfer of full-length dystrophin cDNA via a recombinogenic lentivirus system (2014) (0)
Developmental expression and sub-cellular localisation of fakutin related protein in cultured cell lines and the muscle of patients with MDC1C and LGMD2I (2004) (0)
15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA) (2019) (0)
P.121 Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2) (2017) (0)
G.O.4 Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing (2012) (0)
P11 Optimal dystrophin mini-construct for gene delivery to skeletal muscle (2012) (0)
Treatments and Outcomes for Patients with Spinal Muscular Atrophy Type 2: Findings from RESTORE Registry (P7-9.010) (2023) (0)
P25 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies (2012) (0)
EP.108Expanding phenotype of EGR2 gene related Charcot-Marie-Tooth disease type 1D (2019) (0)
74 Hypermobility in young boys with duchenne muscular dystrophy and the effect on attainment of walking age and North star ambulatory assessment functional skills (2020) (0)
NEW THERAPEUTIC APPROACHES AND THEIR READOUT O.18Significantly reduced muscle damage and inflammation observed in Duchenne muscular dystrophy patients following ezutromid treatment (2018) (0)
SMA - CLINICAL P.92 Comparing motor and respiratory function in SMA Type1 treated with Nusinersen using CHOP INTEND(CHOP) & Great Ormond Street Respiratory Score(GSR) (2020) (0)
I-13Muscle ryanodine receptor in congenitalmyopathies and channelopathies. (2011) (0)
NSAA Rasch 2011 (2015) (0)
INVESTIGATION OF RIBOFLAVIN TRANSPORTER MUTATIONS IN BROWN-VIALETTO-VAN LAERE SYNDROME, A POTENTIALLY TREATABLE METABOLIC DISEASE (2012) (0)
G.P.84 Fatigability during functional outcome measures in participants with myasthenic conditions (2015) (0)
D34 Effects of mini-dystrophin on DMD skeletal muscle stem cells (2018) (0)
Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation (2021) (0)
Ullrich congenital muscular dystrophy fibroblasts and their adhesion to extracellular matrix proteins (2007) (0)
Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy. (2020) (0)
87 Comparison of functional ability in siblings with duchenne muscular dystrophy (2020) (0)
P093 Clinico-pathological and muscle imaging findings in a case of CFTD with TPM3 mutation mimicking congenital myasthenic syndrome (2009) (0)
P.10.16 The presence of developmental and fetal/neonatal myosin in neonatal human muscle (2013) (0)
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. (2023) (0)
Immunopathology and molecular genetics of dystrophinopathies. (2004) (0)
Molecular genetics of recessive limb girdle muscular dystrophies in Finland (2004) (0)
The confounding effect of age in the use of subsarcolemmal mitochondrial aggregates (SSMA) as a diagnostic muscle biopsy marker in paediatric mitochondrial disease (2014) (0)
C.P.3.04 Mild POMGnT1 mutations underlie a novel limb girdle muscular dystrophy variant (2007) (0)
G.P.309 Muscle MRI findings in myopathies due to FHL1 mutation (2015) (0)
P3.08 Induction of dystrophin in DMD patients by antisense oligonucleotide AVI-4658 restores the dystrophin glycoprotein complex (2010) (0)
Autosomal Dominant Emery Dreifuss Muscular Dystrophy: Can Variation in Normal: Mutant mRNA Ratios Explain the Disease's Tissue Specificity and Variable Phenotypic Severity? (2003) (0)
P.20.1 Optimised dystrophin mini-constructs for gene delivery (2013) (0)
SMA THERAPIES II AND BIOMARKERS P.260A long-term, open-label, follow-up study of olesoxime in patients with type 2 or non-ambulatory type 3 SMA who participated in a placebo-controlled phase 2 trial (2018) (0)
P.221Trajectories of disease progression in ambulant and non ambulant SMA: 12 month follow-up (2019) (0)
Long-term Pulmonary Function Outcomes in Non-Ambulatory Patients with Nonsense Mutation Duchenne Muscular Dystrophy Treated with Ataluren: 240-Week Data from an Open-label Extension Study (2018) (0)
Intraventricular recombinant alpha-interferon in subacute sclerosing panencephalitis (1991) (0)
A novel, EPG5-related vacuolar myopathy (2014) (0)
T.P.4.09 Measuring restored dystrophin in treated muscle: An immunohistological intensity measurement method (2009) (0)
CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.53Clinical, genetic and pathological characterization of a wide paediatric cohort of patients with dominant and recessive RYR1-related myopathy (2018) (0)
P.150Consistency of 48-week changes in North Star Ambulatory Assessment (NSAA) between Duchenne muscular dystrophy natural history data and clinical trial placebo arms, after adjustment for prognostic factors (2019) (0)
197 Hypermyelinating neuropathy in a case of partial laminin-2 deficiency (1999) (0)
Congenital stridor or and bilateral vocal cord palsy as a presenting feature of DOK 7 congenital myasthenic syndrome (2009) (0)
SMA THERAPIES I P.167Evaluating the respiratory health of children with spinal muscular atrophy type 1 on nusinersen under the Expanded Access Program (EAP) (2018) (0)
Normal visual function in children with pure congenital muscular dystrophy (1997) (0)
CONGENITAL MYOPATHIES (CNM) P.136INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 3 years and younger with X-linked myotubular myopathy: preliminary findings (2018) (0)
P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features (2019) (0)
DMD & BMD – CLINICAL P.49 Demographics of patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry (2020) (0)
298 Mutations in the lamin a2 chain gene in children with merosin-deficient CMD and cortical dysplasia (1999) (0)
Interpretation of a complex FSHD result in an Asian family in relation to initially apparent compound heterozygosity (2007) (0)
T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy (2012) (0)
Update – Inherited Neuropathies Consortium (P05.144) (2012) (0)
Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases (2020) (0)
P2.15 Assessing the therapeutic potential of LARGE in a new mouse model of dystroglycanopathy (2011) (0)
EM.P.2.03 An investigation of candidate genes in dystroglycanopathy patients (2009) (0)
Ocular characteristics of Duchenne Muscular Dystrophy (2012) (0)
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders (2022) (0)
Modification of RNA splicing in the survival motor neuron 2 (SMN2) gene as a therapeutic option in spinal muscular atrophy (2001) (0)
Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): Global pivotal phase 3 study program (STR1VE-US, STR1VE-EU, STR1VE-AP) (2019) (0)
IMPROVING EARLY DIAGNOSIS IN CHILDREN WITH SKELETAL MUSCLE CHANNELOPATHIES (2016) (0)
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES P.171 Baseline plasma phosphorylated neurofilament heavy chain level predicts sitting in nusinersen-treated individuals with infantile-onset SMA (2020) (0)
Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder (2011) (0)
Evaluation of myocardial involvement in Duchenne dystrophy detected with tissue doppler derived myocardial velocity gradients (2002) (0)
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (2023) (0)
076 Increased physiological responses to threat in Duchenne muscular dystrophy: a potential CNS outcome measure (2022) (0)
muscular dystrophy and Bethlem myopathy collagen VI genes: applications to Ullrich congenital Automated genomic sequence analysis of the three (2005) (0)
P096 Congenital stridor and bilateral vocal cord palsy as a presenting feature of DOK7 congenital myasthenic syndrome (2009) (0)
P17 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy (2012) (0)
Collagen VI, laminopathies and neuropathies: Poster presentations (2008) (0)
P.423 Functional fatigue in a sample of the UK myasthenic population (2017) (0)
G.P.12.05 The topographic distribution of the dystrophin brain isoform in the human cardiac muscle: Implications for the pathogenesis of the x-linked dilated cardiomyopathy (2007) (0)
Neurocognitive and CNS abnormalities in humans with defective thyroid receptor [alpha] (2014) (0)
77 Clinical outcomes of treatment naive and nusinersen treated SMA1 (2021) (0)
HLA-DQB1 alleles prevalence in related and unrelated sardinian multiple sclerosis patients (1991) (0)
ND1 - AMBULATORY FUNCTION IN DUCHENNE MUSCULAR DYSTROPHY (DMD): THE CHARACTERISTIC TRAJECTORY AND VARIATION ACROSS INDIVIDUALS (2018) (0)
P65 Whole genome analysis in a family with dominant muscle disease (2011) (0)
P.6.5 Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing (2013) (0)
Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency (1997) (0)
CHANGES IN THE LEVEL OF EXPRESSION OF A PROTEIN RELATED TO THE MYOTONIC-DYSTROPHY GENE AND THE CORRELATION OF EXPRESSION WITH THE SIZE OR CTG REPEAT EXPANSION (1995) (0)
T.P.5.08 Vertebral fractures in corticosteroid-treated boys with Duchenne muscular dystrophy (2008) (0)
G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2009) (0)
T.I.3 Are we any further in the treatment of muscular dystrophies? (2007) (0)
D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes (2012) (0)
G.P.102 Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Results from the Phase 1b safety and PK study in DMD boys dosed with SMT C1100 (2014) (0)
Clinical presentation in merosin-positive congenital muscular dystrophy (1997) (0)
P.241 Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method (2016) (0)
Dystrophin duplications: distribution, clinical significance, and somatic mosaicism. (2000) (0)
P.220The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA (2019) (0)
I-13 Muscle ryanodine receptor in congenital myopathies and channelopathies (2011) (0)
PERIPHERAL HYPERMYELINATING NEUROPATHY ASSOCIATED WITH LAMININ ALFA2 DEFICIENCY (2006) (0)
Molecular epidemiology of lamin A/C gene mutations in dilated cardiomyopathy (2001) (0)
DMD CLINICAL THERAPIES II P.135DMD-HUB: expanding clinical trial capacity for Duchenne muscular dystrophy, 1 year on (2018) (0)
1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM) (2011) (0)
O.29Engineering stem cell fate determinants for myogenic cell therapies: Notch and PDGF signalling promote stemness and migration of muscle satellite cells and human iPS cell derived myogenic progenitors (2019) (0)
G.P.12.12 Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies (2007) (0)
Seminars are clinically focused, up-to-date reviews, which cover epidemiology, pathophysiology, diagnosis, management, and prevention in no more than 5000 words (2020) (0)
G.P.157 Clinical and pathological features associated with mutations in MICU1 (2014) (0)
A novel non sense mutation in exon 72 of the dystrophin gene producing exon skipping in a bmd patient (1996) (0)
P.2.13 Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy (2013) (0)
The National Molecular Genetics service for Congenital Muscular Dystrophies and Myopathies (2008) (0)
Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy (2001) (0)
A novel variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss – a differential diagnosis in floppy infant syndrome (2012) (0)
Natural History Baseline of Hereditary Motor Sensory Peripheral Neuropathies That Caused by Mutations in the Myelin Protein Zero (S26.004) (2013) (0)
Clinical outcome measures in Collagen 6 (COL6) and Laminin alpha 2(LAMA2) related congenital muscular dystrophy (2012) (0)
Additional file 1: of Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy (2017) (0)
P.390Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE registry and the CINRG natural history study: a matched cohort analysis (2019) (0)
The Charcot-Marie-Tooth (CMT) Infant Scale: A Pilot Study Testing the Ability of the Scale To Monitor Disease Progression in Infant and Children Younger Than Three Years Old (S26.006) (2013) (0)
P.144A cross sectional and longitudinal miRNA profiling study identified a set of novel free-circulating and exosomal miRNAs dysregulated in plasma from Duchenne muscular dystrophy patients (2019) (0)
P28 Assessing the therapeutic potential of LARGE in a mouse model for the limb girdle muscular dystrophies (2012) (0)
P.242 Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophy (2017) (0)
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies (2020) (0)
Cardiac involvement in limb girdle muscular dystrophies (2006) (0)
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.299Minimal detectable change in the North Star ambulatory assessment (NSAA) in Duchenne muscular dystrophy (DMD) (2018) (0)
I-9. Laminopathies in childhood: from emery-dreifuss muscular dystrophy to severe congenital variants (2009) (0)
O7-8 The selenoprotein N related congenital muscular dystrophy, the UK experience: clinical course and genotype/phenotype correlation (2009) (0)
Supplemental Information In Vivo Translatome Pro fi ling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology (2017) (0)
Detection of early cardiac involvement in Duchenne muscular dystrophy using Tissue Doppler Imaging (2001) (0)
P.469 Collection of high quality muscle biopsies for use in DMD clinical trial analysis; process development and implementation (2017) (0)
DMD CLINICAL THERAPIES I P.112STRIDE™: A patient registry study examining the use of ataluren (Translarna™) in patients with nonsense mutation muscular dystrophy (nmDMD) (2018) (0)
Report of a Muscular Dystrophy Campaign funded workshop to review the prevalence of osteoporosis in DMD and its treatment and prevention (2004) (0)
CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model (2022) (0)
G.P.12.11 Do revertants increase with age in Duchenne muscular dystrophy boys? (2007) (0)
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: “Translating” the Translational (2020) (0)
P.1.5 Gene expression profiling identifies molecular pathways associated with collagen VI deficiency (2013) (0)
A family with a dystrophin gene mutation specifically affecting dystrophin expression in the heart (1994) (0)
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness (2021) (0)
P08 Optimal dystrophin mini-construct for gene delivery to skeletal muscle (2011) (0)
Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor [alpha] mutation (2012) (0)
muscular dystrophy The role of free radicals in the pathophysiology of (2015) (0)
P03 The characterisation of out of frame duplications in DMD patients (2010) (0)
Characterization of the early cardiac phenotype in Duchenne muscular dystrophy using tissue doppler imaging derived myocardial performance index (2003) (0)
Gastrostomy placement in paediatric neuromuscular patients: indications and outcome (2006) (0)
Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect (2022) (0)
P.361Language development in spinal muscular atrophy (SMA) type 1 children treated with nusinersen (2019) (0)
P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies (2012) (0)
D20 Meta-analyses of ataluren in patients with nonsense mutation Duchenne muscular dystrophy (2018) (0)
Clinical and muscle MRI findings in congenital muscular dystrophy with distal laxity (2001) (0)
Policy view Cooperation among stakeholders to overcome challenges in orphan medicine development : the example of Duchenne muscular dystrophy (2016) (0)
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies (2022) (0)
Quality of life outcomes following rehabilitation in knee-ankle-foot orthoses (KAFOs) in Duchenne muscular dystrophy (2005) (0)
P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy (2011) (0)
G.P.1.04 Long-term steroid use of intermittent low-dosage prednisolone therapy in Duchenne muscular dystrophy with special reference to tolerance and functional outcomes (2007) (0)
Syncoilin expression in neuromuscular disorders. (2001) (0)
G.P.228 Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy (2015) (0)
Can Breathing Pattern Assessment Predict the Need of Ventilatory Support in Treated SMA1 Infants? (2022) (0)
DMD – BIOMARKERS & OUTCOME MEASURES P.124 mRNA in situ hybridization shows dystrophin transcript subcellular localization imbalance in DMD cells (2020) (0)
3PS1.1 News in pathogenesis of laminopathies (2011) (0)
P20 The host muscle environment has got a profound effect on satellite cell function (2011) (0)
DMD – BIOMARKERS & OUTCOME MEASURES P.128 Developing a behavioural assessment tool to monitor compliance with physical assessment in Duchenne muscular dystrophy (2020) (0)
G.P.207 Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of congenital muscular dystrophies: Analysis of the UK diagnostic service 2001–2013 (2014) (0)
MN04 Microvascular defects secondary to SMN deficiency in spinal muscular atrophy (2017) (0)
M.P.4.01 The value of immunolabelling of myosin heavy chains in the assessment of muscle biopsies (2009) (0)
G.P.2.10 Characterisation of the brain and eye phenotype of a FKRP knock-down mouse model of Muscle–Eye–Brain disease (2008) (0)
Mutations in the skeletal muscle calcium channel (ryanodine receptor) linked to central core disease. Impact on the functional properties of the endogenous calcium release channel in cultured human muscle cells (2003) (0)
G.P.39 An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy (2014) (0)
P.P.4 05 The use of FRET analysis to look at the interaction of glycosyltransferases responsible for dystroglycanopathies (2006) (0)
NMJ+C06 Recessive SCN4A loss of function in congenital myasthenic syndrome, congenital myopathy or fetal akinesia deformation sequence (2017) (0)
Dihydropyridine receptor ( DHPR ) congenital myopathy (2018) (0)
NMJ+C09 CACNA1S related congenital myopathy with periodic paralysis and goodresponse to acetazolamide (2017) (0)
S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy (2012) (0)
Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets (2015) (0)
P.403 Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use (2016) (0)
Downregulation of microRNA-29, -23, and -21 in urine of Duchenne Muscular Dystrophy patients (2018) (0)
Effect of low dose steroids on bone mineral density in children with muscular dystrophy (2000) (0)
Mesolimbic and mesocortical terminal dopamine autoreceptors an in vivo electrophysiological study (1986) (0)
P.284Disordered brain connectivity and reduced grey matter volume in Duchenne muscular dystrophy (2019) (0)
G.O.8 Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathy (2009) (0)
Oligonucleotide-induced exon skipping of the human dystrophin gene (2007) (0)
How much dystrophin to avoid muscular dystrophy (2007) (0)
CMT AND NEUROPATHY P.90Reduced power and manual dexterity have an effect on fine motor function in children with CMT1A (2019) (0)
G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2009) (0)
Ulna length in children with neuromuscular disorders: correlation with height and forced vital capacity (2006) (0)
P.128 A single neonatal delivery of an exon 2 directed AAV9.U7snRNA vector results in long-term dystrophin expression that prevents pathologic features in the Dup2 mouse (2016) (0)
THE PHENOTYPIC GENETIC SPECTRUM OF PATIENTS WITH MUTATIONS IN CYTOPLASMIC DYNEIN HEAVY CHAIN 1 (DYNC1H1) (2013) (0)
P.99A multiplex in situ hybridisation and immunohistochemical (ISH-IHC) assay to study developmental changes in relation to fibre type and sodium channels in human skeletal muscle and their contribution to disease severity (2019) (0)
T.P.2.11 A model of human muscle regeneration in vivo to test potential therapies for DMD (2008) (0)
P68 The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2011) (0)
EP.55A critical review of tools assessing health related quality of life, activity of daily living and caregiver burden in SMA (2019) (0)
Duchenne muscular dystrophy: The effect of low dose intermittent steroids and the disease on bone mineral density levels (2000) (0)
1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome (2012) (0)
Severe depletion of alpha-dystroglycan in Walker-Warburg syndrome (2002) (0)
295 Asymptomatic hereditary motor sensory neuropathy revealed by vincristine treatment (1999) (0)
INV36 Update on neuromuscular diseases (2007) (0)
OD08 STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia (2017) (0)
A multisystem selenoprotein disorder with a thyroid signature (2010) (0)
P.158Congenital-onset hypertrophic cardiomyopathy and skeletal myopathy with nemaline rods and actin filament aggregates due to likely pathogenic recessive variants in CFL2 (2019) (0)
Chapter 29 – Congenital Muscular Dystrophies (2015) (0)
OD15 Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies (2018) (0)
A.P.12 A novel, EPG5-related vacuolar myopathy (2014) (0)
GGPS1 ‐associated muscular dystrophy with and without hearing loss (2022) (0)
A duchenne muscular dystrophy gene hot spot mutation in dystrophin deficient (2019) (0)
P.166Retrospective longitudinal study of patients with NEB-related nemaline myopathy in the United Kingdom (2019) (0)
P16.5 Diagnostic accuracy of stimulation single fibre EMG findings in children with DOK7 congenital myasthenie syndrome (2011) (0)
PO195 Outcome measures for duchenne muscular dystrophy: implications for trials (2017) (0)
Novel disease mechanisms in myopathies (2014) (0)
P.399The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy (2019) (0)
1FC2.3 The Identification of a Viable Outcome Measure in the Collagen VI Myopathies Promotes Progress Toward Clinical Trials (2011) (0)
G.P.261 The application of antisense oligonucleotide therapy in collagen 6-related congenital muscular dystrophy (2015) (0)
NG.O.11 Recessive mutations in novel gene MST01 cause early onset neuromuscular condition (2017) (0)
60. Intramuscular and Systemic Induction of the N-Truncated Dystrophin By Out-Of-Frame Exon 2 Skipping Restores Muscle Function in the Dup2 Mouse, Providing Further Support for a Therapeutic Pathway for 5’ DMD Mutations (2015) (0)
Rapid direct sequence analysis of the three genes encoding collagen VI (2003) (0)
P1.8 The effect of joint hypermobility on children with neuromuscular disorders: Considerations for natural history studies and the interpretation of outcome measures (2011) (0)
G.P.12.12 Predictive factors for progressive foot deformity in non-ambulant boys with Duchenne muscular dystrophy (2008) (0)
Primary or secondary laminin-alpha 2 deficiency? (2004) (0)
Golodirsen Leads to Sarcolemmal Dystrophin Expression in Patients With Genetic Mutations Amenable to Exon 53 Skipping (2019) (0)
AVOIDING UNPLANNED HOSPITAL ADMISSIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES: A REGIONAL COLLABORATIVE AUDIT OF HOSPITAL ADMISSIONS (2012) (0)
P7 Control of transcription elongation is essential for cardiac and skeletal muscle development (2014) (0)
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES P.190 Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III children (2020) (0)
G.O.12 Semi-automated analysis of diaphragmatic motion during deep breathing using dynamic MRI in both healthy controls and non-ambulant Duchenne muscular dystrophy (2014) (0)
The restore registry: A resource for measuring and improving spinal muscular atrophy outcomes (2019) (0)
P27 Chronic long term administration of phosphorodiamidate morpholino oligomer profoundly ameliorates activity, muscle strength and phenotype in dystrophic mdx mice (2010) (0)
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study (2022) (0)
Multi-minicore disease with external ophthalmoplegia and periodic paralysis associated with a mutation in the skeletal muscle ryanodine receptor (RYR1) gene (2005) (0)
DMD – THERAPY P.292 Ataluren delays loss of ambulation and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy (2020) (0)
P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing (2012) (0)
OD16 Correlation between flow cytometry, histology and genetic findings for the diagnosis of collagen VI-related myopathies (2018) (0)
Role of two dimensional and Doppler echocardiography in patients with Duchenne cardiomyopathy (2003) (0)
P.208Improving recognition of spinal muscular atrophy: a retrospective case note review (2019) (0)
Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy (2023) (0)
The effect of the muscle environment on the regenerative capacity of human skeletal muscle stem cells (2015) (0)
T.P.35 Developing the SMA REACH UK database: A combined effort to improve standards of care and translational research in Spinal Muscular Atrophy (2014) (0)
P1.52 BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) – An EU funded FP7 project (2011) (0)
Refinement ofthelaminin a2chainlocus to humanchromosome 6q2insevereandmild merosin deficient congenital muscular dystrophy (2011) (0)
P092 A multicentre audit of vertebral fractures in corticosteroid treated Duchenne muscular dystrophy (DMD) (2009) (0)
Clinically Applicable Dosing Regimens of Phosphorodiamidate Morpholino Oligomer Profoundly Improve Behaviour, Activity, and Dystrophic phenotype in mdx mice (2010) (0)
A6 RNA targeted therapies – the experience from SMA and Duchenne’s muscular dystrophy (2016) (0)
Corrigendum to ‘Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen’ Neuromuscular Disorders 31 (2021) 310–318/doi: 10.1016/j.nmd.2021.02.014. (2022) (0)
OUTCOME MEASURES P.243 First step evaluation of a myasthenic syndrome specific patient reported home-based assessment for monitoring physical symptoms (2020) (0)
A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? (2023) (0)
Diagnostic accuracy of stimulation single fibre EMG findings in children with DOK7 congenital myasthenic syndrome (2011) (0)
Lamin A/C gene mutations in families with dilated cardiomyopathy, conduction system defects, and skeletal muscle disease (2001) (0)
P04 Correction of FKRP function via RNA trans-splicing (2011) (0)
Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
IMPACT OF FOOT ALIGNMENT IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
The dystroglycan complex in patients with mutations in the gene encoding for fukutin-related protein (FKRP) (2002) (0)
IN61-TH-02 Muscular dystrophy: diagnosis and management (2009) (0)
P.229 Skeletal muscle channelopathies: Rare treatable disorders with common presentation in childhood (2017) (0)
P260: Survival in eteplirsen-treated vs Duchenne muscular dystrophy natural history patients: An indirect treatment comparison using real-world data (2023) (0)
G.P.12.03 Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene (2009) (0)
624. A Single Neonatal Delivery of an Exon 2 Directed AAV9.U7snRNA Vector Results in Long-Term Dystrophin Expression That Prevents Pathologic Features in the Dup2 Mouse (2016) (0)
D22 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials (2017) (0)
MND04 In-depth analysis of circulating microRNAs in serum of SMA patients (2018) (0)
Exploring the clinical significance of dystrophin duplications (2000) (0)
iPS cells and human artificial chromosomes: towards a genomic integration-free therapy for Duchenne muscular dystrophy (2016) (0)
Safety, Pharmacokinetic and Exploratory Efficacy of AVI-4658 a Phosphorodiamidate Morpholino Oligomer (PMO) To Skip Exon 51 in Duchenne Muscular Dystrophy Patients (2011) (0)
G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD) (2007) (0)
P.260 Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene (2016) (0)
EP.80The effects of steroid treatment on respiratory function in adults with Duchenne muscular dystrophy after loss of ambulation (2019) (0)
P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies (2019) (0)
G.P.6.01 Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy (2008) (0)
D28 Cardiorespiratory function in Duchenne muscular dystrophy in a UK large tertiary care centre: longitudinal progression and the role of steroid treatment (2018) (0)
Mitochondrial impairment and rescue in riboflavin responsive neuropathy (2017) (0)
P83 Investigating mitochondria in cell culture models of core myopathies (2012) (0)
RATE OF PROGRESSION IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE (2017) (0)
Expanding range of phenotypes associated with mutations in the skeletal muscle ryanodine receptor gene (2006) (0)
Evaluation of the effect of a transient up-regulation of LARGE in the mouse m.tibialis anterior (2006) (0)
A new syndrome of congenital insensitivity to pain diagnosed by skin biopsy and contact heat evoked potentials (CHEPS) (2006) (0)
A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy (2015) (0)
G.P.94 Induction of the N-truncated dystrophin by out-of-frame exon 2 skipping restores muscle function in the Dup2 mouse, providing further support for a therapeutic pathway for 5′ DMD mutations (2014) (0)
Characterization of dystrophin and spectrins in mammalian brain (1990) (0)
EP.65Normal respiratory function in a young adult with Duchenne muscular dystrophy – the possible role of supplements (2019) (0)
P08 Exploring emotional impact in a proof-of-principle single-blind, controlled, two-doses escalation intramuscular study of a morpholino splice-switching oligonucleotide (AVI-4658) trial to induce dystrophin restoration in children with Duchenne muscular dystrophy (2010) (0)
M.P.1.07 The Smartnet Clinical Network – Creation of a national standardised assessment tool and natural history database for spinal muscular atrophy (2009) (0)
P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations (2011) (0)
P75 Exome sequencing identifies EPG5 mutations in two siblings with a childhood onset vacuolar myopathy (2014) (0)
Ullrich-like congenital muscular dystrophy without linkage to collagen VI (2002) (0)
Correction: Corrigendum: Response to “Railroading at the FDA” (2017) (0)
G.P.249 Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Results from a Phase 1b Clinical Trial of SMT C1100 (2015) (0)
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort (2022) (0)
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease (2021) (0)
Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice. (2023) (0)
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis (2023) (0)
Confusing muscle pathology in a child with distal weakness (2015) (0)
T.P.42 Comparison of three scales of motor function in two subtypes of patients with congenital muscular dystrophy (2014) (0)
IDENTIFICATION OF C1INHIBITOR AS A POTENTIAL BIOMARKER FOR N- AND O-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) (2011) (0)
G.P.390 Vitamin D in corticosteroid treated Duchenne muscular dystrophy: What dose achieves serum 25OH vitamin D sufficiency? (2015) (0)
Lamin A/C gene related disorders: the EUROMEN consortium experience (2003) (0)
P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1 (2019) (0)
P86 Cytoplasmic Dynein Heavy Chain 1 causes autosomal recessive congenital distal SMA (2012) (0)
Modeling congenital muscle diseases in zebrafish (2012) (0)
DETERMINANTS OF BALANCE DEFICIT IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE (2013) (0)
G.O.9 Integrins are required for synaptic transmission and development of the neuromuscular junction (2015) (0)
S.P.62 Ocular characteristics of Duchenne Muscular Dystrophy (2012) (0)
Welcome to the World Muscle Society Congress in Brighton (2015) (0)
P12 Neurobehavioural disorders in Duchenne muscular dystrophy (2012) (0)
Muscle MRI in patients with muscular disorders with ridid spine (2002) (0)
Dystroglycan expression during muscle development (2002) (0)
Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease (2011) (0)
S.P.40 BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy (2012) (0)
G.P.22 Generation and rescue of intermediate SMA mice by low-dose morpholino antisense oligomer (2015) (0)
ORAL PRESENTATIONS Preclinical diagnosis of myocardial disease: new indications for tissue Doppler (2003) (0)
O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement (2012) (0)
P62 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials (2011) (0)
Congenital Myopathies: General and Ryr1 (2018) (0)
UK 10 K Consortium (2019) (0)
D32 Update of antisense oligonucleotide therapy in COL6-related congenital muscular dystrophy (2018) (0)
Roles of alpha3-integrin in the development of the neuromuscular system (2012) (0)
D37 Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne Muscular Dystrophy (DMD) (2018) (0)
P.401 Injection site reactions as a consequence of long-term subcutaneous administration of drisapersen in Duchenne muscular dystrophy (2017) (0)
EP.91The DMD-Hub, a collaboration to facilitate trials and increase trial capacity in the UK (2019) (0)
O.10 Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP) (2013) (0)
P.224Supportive thoraco-lumbar-sacral orthosis (TLSO) provision for spinal muscular atrophy (SMA) type 1 children treated with nusinersen (2019) (0)
Extended phenotype of SMA with respiratory distress type 1 (SMARD1) (2002) (0)
P.422 Development of a specific home based assessment tool for monitoring fluctuations in physical function and muscle performance in adult and paediatric myasthenia patients (2017) (0)
Upper Limb Module for Spinal Muscular Atrophy : 12 month changes 1 2 (2019) (0)
Response to letter from Bernardi (2009) (0)
P.404 Muscle fibre size revisited: Updated age-stratified normative data in histologically normal/minimal change (HN/MC) paediatric quadriceps biopsies using a high-throughput automated digital script (2016) (0)
Prospects for the treatment of Duchenne muscular dystrophy (2007) (0)
DMD & BMD – CLINICAL P.57 Comparison of North Star Ambulatory Assessment scores in siblings with Duchenne muscular dystrophy (2020) (0)
P14 Roles of α3-integrin in development of the neuromuscular system (2012) (0)
S.P.41 BIO-NMD: Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy (2012) (0)
Pilot trial of salbutamol in spinal muscular atrophy (2001) (0)
P34 Clinical phenotype and novel mutations in Alsin related motorneuron disease (2011) (0)
D07 Necroptosis, a programmed form of necrosis participates in muscle degeneration in Duchenne muscular dystrophy (2017) (0)
O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure (2012) (0)
P.450 Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure (2017) (0)
P78 An integrative database for clinical and research studies in neuromuscular diseases (2011) (0)
Impaired endothelium independent vasodilatation in patients with sarcoglycan-deficient limb-girdle muscular dystrophy (2003) (0)
POMT2 mutations give rise to Walker Warburg syndrome (2005) (0)
MN03 A multinational, randomized, double-blind, placebo-controlled Phase 2 study to assess safety and efficacy of olesoxime in Type 2 or non-ambulatory Type 3 spinal muscular atrophy (2017) (0)
Exon-skipping therapy for Duchenne muscular dystrophy reply (2012) (0)
P.P.4 01 Glyc-O-genetics of Walker–Warburg syndrome and related disorders (2006) (0)
O03 Antisense approaches in SMA (2010) (0)
P15 Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies (2011) (0)
Genetic defects in mitochondrial calcium handling cause neuromuscular disease (2014) (0)
88 The relationship between upper and lower limb function in a cohort of children with Charcot-Marie-tooth disease (2020) (0)
Antisense therapy of muscular dystrophies (2011) (0)
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1 (2022) (0)
JEWELFISH: 24-month Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Treatment-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P7-9.004) (2023) (0)
P.170 The effect of orthosis and foot surgery in a cohort of Charcot-Marie-Tooth disease children (2017) (0)
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases (2022) (0)
Cellular localisation of wild type and mutated FKRP (2004) (0)
P.P.5 01 RYR1 genotype–phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations (2006) (0)
Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein gene (2002) (0)
O02 Optidystrophin in DMD stem cells (2014) (0)
Oxidative stress in SEPN1-related myopathy: A new therapeutical target (2009) (0)
Pilot trial of Salbutamol in congenital myopathies (2004) (0)
D04 Lung function in ataluren-treated, non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy from a long-term extension trial versus untreated patients from a natural history study (2017) (0)
P3.44 Characterisation of sarcoplasmic reticulum calcium release in equine and human myotubes derived from MyoD-transformed fibroblasts (2011) (0)
Spinal muscular atrophy. (2022) (0)
P.126 Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children (2017) (0)
A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model (2019) (0)
EP.83Design of a Phase 2/3 randomized controlled trial of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy amenable to exon 51 skipping (2019) (0)
G.P.214 Mosaicism for dominant COLVI mutations as a cause for intra-familial phenotypic variability (2014) (0)
Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy (2013) (0)
Congenital myopathy Ehlers-Danlos overlap syndrome caused by the deficiency of an enzyme involved in protein folding in the endoplasmic reticulum: identification and characterization of a novel disorder. (2011) (0)
NG.O.9 Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy (2017) (0)
Response (2011) (0)
Title: GENETIC THERAPIES FOR INHERITED NEUROMUSCULAR DISORDERS (2018) (0)
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.308Determination of the minimal clinically important difference (MCID) for clinical trial outcome measures in Duchenne muscular dystrophy (2018) (0)
P5 Detection of circulating miRNAs in serum in a mouse model of Collagen VI Deficiency (2014) (0)
DYSTROPHINOPATHY: FUNCTIONAL EVALUATION AND ORGAN INVOLVMENT (2013) (0)
P.29 Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophy (2017) (0)
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (2012) (0)
G.P.147 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials (2015) (0)
HLA CLASS-II GENES AND INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) IN SARDINIA (1993) (0)
76 Evaluating knee ankle foot orthoses in children with type 1 spinal muscular atrophy (2021) (0)
P90 A morpholino antisense oligonucleotide rescues type I and type III SMA mice (2012) (0)
P05 Assessment of potential promoters for lentiviral gene therapy in DMD (2011) (0)
P.342Ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene – evaluation through a managed access agreement (2019) (0)
G.P.26 DOK7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy (2012) (0)
Author response: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan (2020) (0)
Muscle wasting and repair after injury can be potentialy modulated by autologous growth factors combined with a TGF-b antagonist (2013) (0)
559. Spell Checking Nature: A Therapeutic Use of the CRISPR/Cas9 System in Duchenne Muscular Dystrophy (2015) (0)
P.147Muscle biopsies in clinical trials for Duchenne muscular dystrophy – patients' and caregivers' perspective (2019) (0)
NATURAL HISTORY BASELINE PHENOTYPE AND GENOTYPE OF HEREDITARY MOTOR SENSORY PERIPHERAL NEUROPATHIES CAUSED BY MUTATION IN THE MYELIN PROTEIN ZERO (2013) (0)
Clinical phenotype in limb girdle dystrophies with defects in α, β & γ sarcoglycans (1996) (0)
P.333LAMA2-related congenital muscular dystrophy: clinical course in a large paediatric cohort (2019) (0)
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. (2019) (0)
84 Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III children (2020) (0)
The identification of compound heterozygous mutations in the Fukutin gene in two non Japanese patients with Limb girdle muscular dystrphy. (2006) (0)
Coronary flow reserve in muscle dystrophies. (1997) (0)
Expression analysis of alpha-dystroglycan glycosyltransferases during myoblast-myotube differentiation (2009) (0)
P16 Ocular findings in Duchenne muscular dystrophy – an observational case series (2012) (0)
P.235Clinico-pathological characterisation of CACNA1S related congenital myopathy in children (2019) (0)
P20 Optimised dystrophin mini-constructs for gene delivery (2014) (0)
C.P.4.16 Core myopathy without mutations in RYR1 or SEPN1 genes (2007) (0)
Gene therapy in hereditary neuromuscular diseases (2021) (0)
P.212Mortality in patients with spinal muscular atrophy over the last 10 years: the UK experience (2019) (0)
P72 Uncovering the role of mitochondria in the pathogenesis of core myopathies (2010) (0)
OD19 SMA REACH UK: Relationship between the Revised Hammersmith Scale (RHS) and Revised Upper Limb Module (RULM) in a UK cohort of patients with SMA type 2 and 3 (2017) (0)
G.P.395 Does an inability to achieve plantargrade at the ankle joint have an impact on the outcome measures of the six minute walking test and North Star ambulatory assessment; and is this further compounded by illio-tibial band tightness? (2015) (0)
P01 Quantification of exon skipping in Duchenne muscular dystrophy by qRT-PCR (2011) (0)
1FC2.6 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues (2011) (0)
P05 Induction of dystrophin in Duchenne muscular dystrophy patients by antisense oligonucleotide AVI-4658 restores the dystrophin-associated glycoprotein complex (2010) (0)
DMD – BIOMARKERS & OUTCOME MEASURES P.133 Increased physiological responses to threat in Duchenne muscular dystrophy: A potential CNS outcome measure (2020) (0)
GENE-FREQUENCY AND MECHANISM OF GENERATION OF A NOVEL HLA-DQB1 ALLELE (1993) (0)
Picture of the Month Skin changes in Ullrich congenital muscular dystrophy q , qq (2008) (0)
Response to letter: A decision for life - Treatment decisions in newly diagnosed families with spinal muscular atrophy. (2020) (0)
Pediatric Neuropathy Scale (CMTPed) for Charcot-Marie-Tooth Disease (CMT) (2010) (0)
An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine (1997) (0)
NMJ+C12 Functional fatigue in a sample of the UK myasthenic population (2017) (0)
G.P.6 Assessing the long term expression of LARGE as a potential therapy in a mouse model of LGMD2I (2012) (0)
Biochemistry of Duchenne muscular dystrophy (2015) (0)
94 Secondary outcomes of spinal surgery in patients with spinal muscular atrophy (SMA): a retrospective analysis and a family-centred survey (2019) (0)
P10 The next DMD exon skipping trial: selection of AO target (2012) (0)
DMD & BMD – CLINICAL P.58 Hypermobility in young boys with Duchenne muscular dystrophy and its effect on attainment of North Star Ambulatory Assessment functional skills (2020) (0)
Revised Hammersmith Scale (2018) (0)
1FC2.1 Exon skipping and dystrophin restoration in Duchenne Muscular Dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment (2011) (0)
PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.322 Defects in mucolipin-1 (mucolipidosis type IV) cause dystrophic changes in human muscle (2020) (0)
C.P.3.11LARGE induced hyperglycosylation of alpha-dystroglycan as a therapeutic strategy in secondary dystroglycanopathies (2007) (0)
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. (2022) (0)
G.P.25 Dysregulation of microRNAs in spinal muscular atrophy and the response to antisense oligonucleotide therapy (2015) (0)
Impaired endothelium independent vasodilatation of the brachial artery in patients with limb-girdle muscular dystrophy indicates smooth muscle cell dysfunction. (2005) (0)
CONGENITAL MUSCULAR DYSTROPHIES P.203 Recessive variants in COL25A1 are responsible for arthrogryposis multiplex congenita with an ocular congenital cranial dysinnervation disorder (2020) (0)
P.111 Patient's perception around disease progression and influential factors in spinal muscle atrophy (2017) (0)
P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy (2012) (0)
MDO03 Dystonia as part of the spectrum of Prader Willi Syndrome (2007) (0)
POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan (2020) (0)
G.P.28 Revised Hammersmith scale for spinal muscular atrophy: Inter and intra-rater reliability and content validity from a patient perspective (2015) (0)
P.332 Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy (2016) (0)
G.P.191 What factors are associated with the prevalence of sub-sarcolemmal mitochondrial aggregates (SSMA) in paediatric skeletal muscle? Examining the use and limitations of SSMA as a diagnostic muscle biopsy marker (2014) (0)
D30 A semi-automated image processing method for quantify dystrophin coverage at the sarcolemma membrane of each individual muscle fibre (2017) (0)
G.P.13.07 Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene (2008) (0)
P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2006) (0)
P.83Vacuolar myopathy with valosin containing protein (VCP)-positive intranuclear and cytoplasmic inclusions: report of two cases with early and late childhood-onset disease (2019) (0)
P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients (2019) (0)
Strain rate can accurately predict a more aggressive cardiac involvement in asymptomatic patients with duchenne muscular dystrophy (2004) (0)
O7-6 Restoration of dystrophin in DMD: a single blind, placebo-controlled dose escalation study using Morpholino oligomer AVI-4658 (2009) (0)
protein for extracellular matrix components immobilization reveals alterations in mRNA and Analysis of human skeletal muscle after 48 h (2015) (0)
The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al. (2020) (0)
P07 The feasibility of exon skipping to restore the reading frame in DMD patients with duplications (2011) (0)
Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy (2017) (0)
Dystrophic central core disease or muscular dystrophy with central cores? A possible new autosomal recessive disorder with central core disease (1997) (0)
Immunocytochemical analysis of muscle agrin in MDC1C and LGDM2I (2003) (0)
SMA THERAPIES II AND BIOMARKERS P.264Circulating microRNAs as biomarkers in Spinraza treated SMA patients (2018) (0)
G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies (2012) (0)
OD03 Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases (2018) (0)
CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA P.75Development of a home based assessment tool for monitoring fluctuations in symptoms in the myasthenic population (2018) (0)
Actin and nemaline-related myopathy (2000) (0)
MITOCHONDRIAL DISEASES (Posters) P.189A novel case of MSTO1 gene related congenital muscular dystrophy with cerebellar involvement (2018) (0)
P40 BIOIMAGE-NMD (BIOIMAGE-Neuromuscular Diseases) (2014) (0)
MITOCHONDRIAL DISEASES (Posters) P.195A novel multiplex chromogenic immunoassay for evaluating mitochondrial respiratory chain complex I and complex IV defects in diagnostic muscle biopsies (2018) (0)
P59 Transcriptome analysis in a mouse model of FKRP-deficient muscular dystrophy (2014) (0)
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy (2021) (0)
Biochemical and Epigenetic Modifications Occur in Muscles of Patients with Selenoprotein N Related Congenital Myopathy (2019) (0)
EMBARK, a Phase 3 Trial Evaluating Safety and Efficacy of Delandistrogene Moxeparvovec (SRP- 9001) in Duchenne Muscular Dystrophy (DMD): Study Design and Baseline Characteristics (P5-8.012) (2023) (0)
IMPACT OF VISUAL INPUT ON BALANCE IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE (2016) (0)
Dr Joana Domingos (1984–2018) (2018) (0)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
EC.O.4 Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches (2017) (0)
P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease (2011) (0)
P07 Translation related clinical trials in duchenne muscular dystrophy (DMD) in the UK (2010) (0)
In situ hybridization of FKRP mRNA during mouse development (2004) (0)
M.P.5.03 Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine (2009) (0)
P.293 Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide (2017) (0)
Identification of the gene causing congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome (RSMD1) (2001) (0)
Correction (2016) (0)
Genedeletions inspinal muscular atrophy (2017) (0)
A WINDOW INTO MOTOR NEURON DEVELOPMENT: WHOLE EXOME SEQUENCING OF DOMINANT CONGENITAL SPINAL MUSCULAR ATROPHY (DCSMA) (2013) (0)
RYR1 gene genotype-phenotype and functional correlative studies in central core disease and multi-minicore disease (2005) (0)
G.P.29 Revised Hammersmith scale for spinal muscular atrophy (2015) (0)
G.P.272 Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies (2015) (0)
THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS (2017) (0)
Assessment of the variability between human AC133+stem cells of different donors in delivery to skeletal muscle and subsequent contribution to muscle regeneration (2011) (0)
P.51 Exploring the microvascular abnormalities in a cohort of paediatric patients with spinal muscular atrophy (2016) (0)
Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies (2017) (0)
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping (2023) (0)
P2.5 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials (2011) (0)
A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes (2002) (0)
P4.51 Correction of FKRP function via RNA trans-splicing (2011) (0)
P.268Does 6 minute walk test distance correlate with motor function assessment and timed tests in ambulant boys with Becker muscular dystrophy? (2019) (0)
THE VALUE OF CARDIAC MRI IN PRE-OPERATIVE RISK ASSESSMENT FOR PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY (2014) (0)
S.P.60 Neurobehavioural disorders in Duchenne Muscular Dystrophy (2012) (0)
NMJ&C10 Development of a home-based assessment tool for monitoring fluctuations in physical function and muscle performance in the myasthenic population (2018) (0)
Genetic and transcription analysis in Rett syndrome. (1999) (0)
Targeted gene correction of FKRP by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells (2017) (0)
P12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathies (2011) (0)
D23 Deep-phenotyping of the central nervous system in dystrophinopathies: the fear response (2017) (0)
Ataluren Preserves Upper Limb Function in nmDMD Patients from Study 041, a Phase 3 Placebo-Controlled Trial, and the STRIDE Registry (S34.008) (2023) (0)
Serial casting of the ankles in Duchenne muscular dystrophy: an alternative to surgery? (2006) (0)
7. Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in multiple sclerosis patients from Sardinia (1991) (0)
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES P.79The relationship between function and muscle strength in the upper limb in a cohort of children with spinal muscular atrophy type II and III – a prospective study (2018) (0)
G.P.105 The muscle environment affects the capacity of human myogenic progenitor cells to regenerate skeletal muscle and to reconstitute the satellite cell pool (2015) (0)
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3 (2004) (0)
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES P.230Clinical, genetic and pathological characterization of a wide cohort of UK patients with NEB gene related nemaline myopathy (2018) (0)
Clinical, morphological and molecular study of a large cohort of patients with congenital myopathies (2013) (0)
Clinical phenotype in patients with mutations in the fukutin-related protein (FKRP) gene (2002) (0)
Therapeutic highlights in muscular dystrophies (2006) (0)
P61 The spectrum of genetic defects responsible for congenital fibre type disproportion (2011) (0)
G.P.216 Biomarker development to support the clinical development of utrophin modulators for Duchenne muscular dystrophy therapy (2015) (0)
DMD – BIOMARKERS & OUTCOME MEASURES P.123 Novel image analysis to assess molecular functionality of dystrophin in Duchenne muscular dystrophy clinical trials (2020) (0)
P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials (2014) (0)
Disorders of Voluntary Muscle (2002) (0)
G.P.2.08 LARGE overexpression in transgenic mice: Implications for therapeutic interventions in muscular dystrophy (2008) (0)
O03 Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease (2011) (0)
C.P.3.02 Expanding the clinical spectrum of POMT1 and POMT2 phenotype: A multicentric study in the Italian population (2007) (0)
UPDATE IN NEUROMUSCULAR DISORDERS (2001) (0)
RYR1 mutations and multi-minicore disease (2007) (0)
P.254The clinical and genetic spectrum of a UK cohort of paediatric and adult patients with MYH7 gene related skeletal myopathies (2019) (0)
G.P.279 Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period (2015) (0)
Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy (2009) (0)
MRI in differential diagnosis of multiple sclerosis: Report of 3 emblematic cases (1992) (0)
Expression and developmental regulation of dystrobrevin isoforms in fetal muscle and Duchenne and Becker muscular dystrophies (2003) (0)
P04 Lentivirus-mediated stem cell therapy for Duchenne muscular dystrophy (2010) (0)
An intronic mutation in the dystrophin gene causing X-linked dilated cardiomyopathy may indicate the presence of splicing regulatory motifs (2001) (0)
DMD – BIOMARKERS & OUTCOME MEASURES P.129 Grip strength is a reliable outcome measure throughout the life span of patients with Duchenne muscular dystrophy (2020) (0)
The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene (2009) (0)
CONGENITAL MYOPATHIES: GENERAL AND RYR1 P.43Prevalence of cytoplasmic bodies in a large series of diagnostic paediatric muscle biopsies (2018) (0)
Abnormal neuromuscular transmission in a case of myotubular (centronuclear) myopathy (2001) (0)
Replication and Transcription in Fibroblasts from Patients with Emery-Dreifuss Muscular Dystrophy and Familial Partial Lipodystrophy (2002) (0)
BIO-NMD: discovery and validation of biomarkers for neuromuscular diseases (NMDs) - an EU funded FP7 project (2012) (0)
P41 Genetic mutation frequency in patients with hereditary sensory and autonomic neuropathies (HSAN) (2011) (0)
D32 Dystrophin quantification on Western blotting: comparative analysis of different methods (2017) (0)
P167 – 2623: The wide spectrum of neuropsychiatric profile in DMD in relation to underlying dystrophin gene mutations (2015) (0)
NG.O.14 A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides (2017) (0)
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
1013-113 Strain rate and strain rate-derived time to onset of relaxation can be used for the early detection of impaired myocardial function in asymptomatic boys with duchenne muscular dystrophy (2004) (0)
P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene (2011) (0)
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.303Development of a conversion method to enable an accurate PUL v.2 score from PUL v.1.2 data in a cohort of Duchenne muscular dystrophy patients (2018) (0)
P.49 Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort (2016) (0)
P18 Developing allele-selective silencing by antisense oligonucleotide as a therapeutic strategy for autosomal dominant neuromuscular diseases (2014) (0)
T.P.1.07 Correcting SMN2 splicing with tailed antisense oligoribonucleotides: a promising therapeutic strategy for spinal muscular atrophy (2009) (0)
DMD & BMD – CLINICAL P.53 Duchenne muscular dystrophy: does being a younger affected sibling confer long term improved outcomes through earlier diagnosis and management? (2020) (0)
P38 Charcot-Marie-Tooth disease and related disorders: a natural history study (2011) (0)
G.P.1.01 Redefining the clinical spectrum of collagen VI disorders (2008) (0)
D19 Potential antisense oligonucleotide therapeutic approaches in COL6-related congenital muscular dystrophy (2017) (0)
P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing (2013) (0)
P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies (2014) (0)
P40 Dystrophin expression in DMD pericytes after infection with U7 lentivirus designed to skip dystrophin exon 51 (2010) (0)
Occurrence of two splicing enhancers and a 5 AE cryptic splice site within a LINE1 retrotransposon (L1PMA2): a novel focus on mobile elements functioning? (2002) (0)
Erratum to: A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene (1993) (0)
Genotype/phenotype correlation in childhood autosomal recessive spinal muscular atrophy (SMA) by pulsed field gel analysis. (1997) (0)
Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark (2004) (0)

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