Thomas Voit

Q: What Schools Are Affiliated With Thomas Voit

Thomas Voit is affiliated with the following schools: University of California, Berkeley, University College London, Heinrich Heine University Düsseldorf, University of Chicago, Stanford University, Sorbonne University, Harvard University

Thomas Voit's AcademicInfluence.com Rankings

Thomas Voit

Computer Science

#9561

World Rank

#10036

Historical Rank

Database

#6530

World Rank

#6765

Historical Rank

computer-science Degrees

Download Badge

Computer Science

Thomas Voit's Degrees

PhD Computer Science Stanford University
Masters Computer Science Stanford University

Similar Degrees You Can Earn

Why Is Thomas Voit Influential?

(Suggest an Edit or Addition)

(See a Problem?)

Thomas Voit'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 the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus (2006) (748)
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. (2001) (715)
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (2002) (665)
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection (2006) (622)
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)
G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex (2004) (486)
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)
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)
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. (2000) (405)
Ataluren treatment of patients with nonsense mutation dystrophinopathy (2014) (373)
Lack of myostatin results in excessive muscle growth but impaired force generation (2007) (372)
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2007) (358)
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. (2000) (349)
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)
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (2017) (302)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. (2011) (285)
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study (2014) (283)
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. (2006) (262)
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome (2004) (259)
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers (2015) (248)
Patterns and predictors of sleep disordered breathing in primary myopathies (2002) (239)
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)
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia (2008) (219)
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)
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. (2008) (204)
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (2009) (202)
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). (2004) (192)
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity (1995) (189)
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. (2000) (187)
A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene (2002) (186)
Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders (2003) (184)
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review (2002) (170)
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial (2005) (170)
Sleep-disordered breathing and respiratory failure in acid maltase deficiency (2001) (163)
Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease (2001) (160)
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial (2015) (158)
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (2011) (157)
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy (2017) (156)
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. (1996) (156)
Secondary calpain3 deficiency in 2q-linked muscular dystrophy (2001) (153)
Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies (2004) (146)
Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders (2003) (143)
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome (2007) (141)
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. (2003) (141)
Direct visualization of the dystrophin network on skeletal muscle fiber membrane (1992) (141)
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (2000) (133)
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. (2005) (132)
Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. (2012) (131)
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene (2005) (127)
Sleep disordered breathing in spinal muscular atrophy (2004) (125)
In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts. (2012) (123)
Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 (2003) (120)
Periaxin mutations cause a broad spectrum of demyelinating neuropathies (2002) (118)
Predictors of severe chest infections in pediatric neuromuscular disorders (2006) (116)
Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice (2014) (115)
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (1997) (115)
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients. (2014) (113)
Congenital muscular dystrophies: 1997 update (1998) (112)
HORIZONTAL TRANSMISSION OF HIV INFECTION BETWEEN TWO SIBLINGS (1986) (110)
Autosomal dominant transmission of GLUT1 deficiency. (2001) (108)
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I (2004) (107)
Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. (2004) (106)
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. (2005) (101)
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. (2006) (101)
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) (2004) (99)
Respiratory failure in Pompe disease: Treatment with noninvasive ventilation (2005) (97)
IPPB‐assisted coughing in neuromuscular disorders (2006) (97)
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. (2016) (96)
Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease (2002) (95)
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. (2004) (95)
Distinctive Serum miRNA Profile in Mouse Models of Striated Muscular Pathologies (2013) (95)
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. (1988) (92)
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy (2005) (85)
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches (2017) (84)
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies (2013) (84)
NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age (2015) (83)
A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice Immunological evidence (1991) (83)
Serum profiling identifies novel muscle miRNA and cardiomyopathy-related miRNA biomarkers in Golden Retriever muscular dystrophy dogs and Duchenne muscular dystrophy patients. (2014) (83)
Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice (2013) (82)
Defective protein glycosylation in patients with cutis laxa syndrome (2005) (81)
Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy (2014) (80)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations (2012) (80)
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. (2000) (79)
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene (2008) (79)
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients (2013) (79)
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. (2000) (78)
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands (2005) (77)
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial (2013) (71)
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. (1996) (71)
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study (2009) (70)
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. (2003) (69)
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (2004) (69)
Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach. (2016) (69)
Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle (1999) (67)
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy (2000) (66)
Repair of Rhodopsin mRNA by Spliceosome-Mediated RNA Trans-Splicing: A New Approach for Autosomal Dominant Retinitis Pigmentosa (2015) (66)
Dystrophin and nebulin in the muscular dystrophies (1988) (66)
Manual segmentation of individual muscles of the quadriceps femoris using MRI: A reappraisal (2014) (66)
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (2004) (65)
Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in. (2013) (65)
Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy (2013) (64)
Myopathy with unique ultrastructural feature in marchinesco‐sjögren syndrome (1988) (64)
Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy (2015) (64)
AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy. (2013) (64)
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. (1998) (63)
DHPR α1S subunit controls skeletal muscle mass and morphogenesis (2010) (63)
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases (2014) (63)
Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial (2015) (61)
Diagnostic measures for sarcopenia and bone mineral density (2013) (61)
Non‐invasive ventilation reduces respiratory tract infections in children with neuromuscular disorders (2008) (61)
Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. (1995) (61)
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy (2010) (60)
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy (2016) (60)
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation (2010) (60)
Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization (2014) (59)
Fetal CNS damage after exposure to maternal trauma during pregnancy (1996) (59)
β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine (2001) (58)
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. (2006) (58)
Human Galectin 3 Binding Protein Interacts with Recombinant Adeno-Associated Virus Type 6 (2012) (58)
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy (2016) (57)
A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model. (2017) (57)
Introduction of a ketogenic diet in young infants (2002) (57)
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy (2016) (57)
Removal of Metabolites, Cytokines and Hepatic Growth Factors by Extracorporeal Liver Support in Children (2005) (56)
Caveolinopathy – New mutations and additional symptoms (2008) (56)
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency (2005) (55)
Diagnostic criteria for sarcopenia and physical performance (2014) (55)
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A (2004) (54)
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus (2001) (52)
De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. (2011) (52)
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes (1995) (52)
Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial (2015) (51)
Gait analysis using accelerometry in dystrophin-deficient dogs (2009) (50)
Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease (2003) (50)
Multiple brain abscesses caused by Salmonella enteritidis in a neonate: successful treatment with ciprofloxacin. (1993) (50)
Damage of thalamus and basal ganglia in asphyxiated full-term neonates. (1987) (50)
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. (2003) (49)
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines (2016) (49)
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy (2017) (49)
Dystrophin and dystrophin-related protein (utrophin) distribution in normal and dystrophin-deficient skeletal muscles (1993) (49)
Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation (2000) (48)
Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro (2003) (47)
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies (2015) (47)
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients (2014) (46)
Spontaneous regression of a temporal arachnoid cyst (1991) (46)
Adult Polyglucosan Body Myopathy (1992) (46)
Respiratory function assessment and intervention in neuromuscular disorders (2005) (46)
Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation. (2012) (45)
Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroids. (1998) (43)
Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI (2004) (43)
Xp21 dystrophin and 6q dystrophin-related protein. Comparative immunolocalization using multiple antibodies. (1991) (43)
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)
Childhood Pompe disease: clinical spectrum and genotype in 31 patients (2016) (42)
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2015) (42)
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (2002) (42)
Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. (1994) (40)
Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy (2017) (40)
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy (2016) (40)
X‐Linked Dilated Cardiomyopathy (1995) (40)
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. (1991) (39)
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy (2013) (39)
Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry (1996) (38)
Dystrophin quantification (2014) (38)
Changes of laminin β2 chain expression in congenital muscular dystrophy (1997) (38)
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. (1998) (38)
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy (2016) (37)
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment (2016) (37)
Ultrasound measurement of quadriceps muscle in the first year of life. Normal values and application to spinal muscular atrophy. (1993) (37)
Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1 (2017) (37)
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin (2008) (37)
scAAV9 intracisternal delivery results in efficient gene transfer to the central nervous system of a feline model of motor neuron disease. (2013) (36)
HMSNL in a 13-year-old Bulgarian girl (1998) (35)
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I (2005) (34)
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies (2010) (34)
Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. (1999) (34)
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. (2010) (34)
Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches (2013) (33)
Pallister-Killian syndrome in older children and adolescents. (1993) (32)
Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers (2005) (31)
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach (2014) (31)
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy (2019) (31)
Longitudinal ambulatory measurements of gait abnormality in dystrophin-deficient dogs (2011) (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)
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. (2020) (30)
Prenatal detection of merosin expression in human placenta. (1994) (30)
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation (2015) (29)
C-Reactive Protein (CRP) Is Essential for Efficient Systemic Transduction of Recombinant Adeno-Associated Virus Vector 1 (rAAV-1) and rAAV-6 in Mice (2013) (29)
Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis (2013) (28)
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern (2010) (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)
Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophy (2014) (28)
Disseminated adenovirus infection with respiratory failure in pediatric liver transplant recipients: Impact of intravenous cidofovir and inhaled nitric oxide (2006) (28)
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I (2004) (28)
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. (2000) (27)
Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles. (2016) (27)
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. (2000) (27)
Hearing loss in facioscapulohumeral dystrophy (1986) (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)
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD (2002) (25)
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. (1995) (25)
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. (2003) (25)
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. (2001) (24)
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. (2018) (24)
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)
Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan (2005) (22)
Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries (2000) (22)
Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene (2001) (22)
Fumarase deficiency presenting with periventricular cysts (2005) (22)
Spatial distribution of β-spectrin in normal and dystrophic human skeletal muscle (1997) (21)
Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017 (2018) (21)
CellWhere: graphical display of interaction networks organized on subcellular localizations (2015) (21)
Serum antibodies to the deleted dystrophin sequence after cardiac transplantation in a patient with Becker's muscular dystrophy. (1995) (21)
Neurological manifestations in three German children with AIDS. (1987) (20)
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). (2007) (20)
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype (2015) (20)
Wheat Kernel Ingestion Protects from Progression of Muscle Weakness in mdx Mice, an Animal Model of Duchenne Muscular Dystrophy (1996) (20)
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation (1999) (19)
Novel TPM3 mutation in a family with cap myopathy and review of the literature (2014) (19)
A Single Intravenous AAV9 Injection Mediates Bilateral Gene Transfer to the Adult Mouse Retina (2013) (18)
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? (2000) (18)
Clinical results of early orthopaedic management in Duchenne muscular dystrophy. (1995) (18)
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. (2016) (18)
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. (1998) (17)
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)
Expect the unexpected: favourable outcome in Munchausen by proxy syndrome (2008) (16)
Elastic properties of skeletal muscle and subcutaneous tissues in Duchenne muscular dystrophy by magnetic resonance elastography (MRE): A feasibility study (2015) (16)
Serpentine fibula — polycystic kidney syndrome and Melnick-Needles syndrome are different disorders (1993) (16)
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy (2020) (16)
From adhalinopathies to alpha-sarcoglycanopathies: An overview (1996) (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)
133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21–23 January 2005, Naarden, The Netherlands (2005) (16)
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures (2005) (15)
Challenges of clinical trial design for DMD (2015) (15)
DNAJB2 expression in normal and diseased human and mouse skeletal muscle. (2010) (15)
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (1996) (14)
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome (2020) (14)
Distribution of dystrophin, nebulin and Ricinus communis I (RCA I)-binding glycoprotein in tissues of normal and mdx mice (1989) (14)
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency (2004) (14)
Differential integrin expression by T lymphocytes: Potential role in DMD muscle damage (2010) (14)
Hepatoblastoma in a 2-year-old child of a liver-transplanted mother (1997) (14)
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. (2006) (14)
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene (1992) (13)
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy (2020) (13)
Focal myopathy induced by chronic heroin injection is reversible (2000) (13)
Changes of laminin beta 2 chain expression in congenital muscular dystrophy. (1997) (13)
Demonstration of Borrelia burgdorferi infection in a child with Guillain-Barré syndrome. (1993) (13)
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy (2015) (13)
Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport? (2003) (12)
G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation (2012) (12)
Neurosensory hearing loss in secondary adhalinopathy. (1996) (11)
International retrospective natural history study of LMNA-related congenital muscular dystrophy (2021) (11)
Co-localization of fukutin and α-dystroglycan in the mouse central nervous system (2004) (11)
A small in‐frame deletion within the protease domain of muscle‐specific calpain, p94 causes early‐onset limb‐girdle muscular dystrophy 2A (1998) (11)
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th–10th February 2008 Naarden, The Netherlands (2009) (11)
CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE (2009) (11)
Hypoglycorrhachia: A simple clue, simply missed (2001) (11)
Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (2015) (10)
Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. (2016) (10)
Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy (2020) (10)
Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity (2010) (10)
Mypopathy in Williams-Beuren syndrome (1991) (10)
Zhang, W. et al. Enzymatic diagnostic test for muscle-eye-brain type congenital muscular dystrophy using commercially available reagents. Clin. Biochem. 36, 339-344 (2003) (10)
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy (2020) (10)
Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy (2004) (10)
Genetic Analysis of the First 4 Patients with β-Ureidopropionase Deficiency (2006) (10)
90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands (2002) (9)
High urinary ferritin reflects myoglobin iron evacuation in DMD patients (2018) (9)
P4.36 Upper limb evaluation in non-ambulatory patients with neuromuscular disorders (2010) (9)
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (2004) (9)
Myopathy in Williams-Beuren syndrome. (1991) (9)
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia (2016) (9)
Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph (2018) (9)
Sudden loss of hearing and vestibular function, muscular weakness, and multiple white matter lesions in preschool children. (1992) (8)
[Nocturnal noninvasive ventilation of children and adolescents with neuromuscular diseases: effect on sleep and symptoms]. (2003) (8)
Coisogenic all-plus-one immunization: a model for identifying missing proteins in null-mutant conditions. Antibodies to dystrophin in mdx mouse after transplantation of muscle from normal coisogenic donor. (1994) (8)
Airway nitric oxide in Duchenne muscular dystrophy. (2002) (8)
T.P.5.01 Phase 2b Study of PTC124 in Duchenne/Becker muscular dystrophy (DMD/BMD): Demographic and other baseline data (2008) (8)
Spatial Distribution of a Porphyrin-Based Photosensitizer Reveals Mechanism of Photodynamic Inactivation of Candida albicans (2021) (7)
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy (2020) (7)
[The bobble head doll syndrome]. (1987) (7)
Demonstration ofBorrelia burgdorferi infection in a child with Guillain-Barré syndrome (1993) (7)
Multisystem triglyceride storage disorder without ichthyosis in two siblings (1994) (7)
Hyperintense lesions of the globus pallidus on MRI in children with chronic liver disease (1994) (7)
RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect (2017) (7)
Laminin α2 chain-deficient congenital muscular dystrophy (1998) (7)
T.I.1 The challenge of making therapies happen for neuromuscular diseases (2014) (7)
Gamification als Change-Management-Methode im Prozessmanagement (2015) (7)
Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy (1992) (6)
Acute liver failure associated with Coxsackie virus B2 infection in a neonate (2004) (6)
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities (2007) (6)
Effi cacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids ( DELOS ) : a double-blind randomised placebo-controlled phase 3 trial (2015) (5)
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. (1996) (5)
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation (2014) (5)
Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome? (1999) (5)
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene (1995) (5)
P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features (2010) (5)
P1.37 DHPR α1S subunit controls skeletal muscle mass and morphogenesis (2010) (5)
Costameric distribution of beta-dystroglycan (43 kDa dystrophin-associated glycoprotein) in normal and dystrophin-deficient human skeletal muscle. (1996) (5)
Neonatal myotonic dystrophy in a premature infant: clinical and morphological findings. (1987) (4)
Progressive dystonia in a 12-year-old boy. (2003) (4)
P097 A new locus for an autosomal recessive congenital muscular dystrophy without brain involvement maps to chromosome 7p21 (2009) (4)
Binding of Ricinus communis I lectin to developing dystrophic muscle in human fetus (1988) (4)
[High-dose immunoglobulin treatment of epilepsy in children]. (1993) (4)
CD 49 d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy (2018) (3)
P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population (2013) (3)
Spatial distribution of beta-spectrin in normal and dystrophic human skeletal muscle. (1997) (3)
T.P.23 Quantitative evaluation of locoregional high venous pressure rAAV8-U7- ESE6-ESE8 exon-skipping therapy in the GRMD dog using NMR 1H imaging and 31P spectroscopy (2012) (3)
RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy (2021) (3)
Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD) (2019) (3)
Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system. (2004) (3)
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy. (2020) (2)
Expanding the spectrum of POMT1 mutations: limb-girdle muscular dystrophy with mental retardation and microcephaly (LGMD2K) (2006) (2)
Preserved merosim M-chain (or Laminin-α2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. (1995) (2)
P.261Consistent long-term effect of idebenone in reducing respiratory function decline in advanced patients with Duchenne muscular dystrophy (2019) (2)
P.227 Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy (2016) (2)
C.I.2 An update on the congenital muscular dystrophies (2007) (2)
Program and abstracts for the 2012 Joint Meeting of the Society for Glycobiology & American Society for Matrix Biology (2012) (2)
G.O.25 Adeno-associated virus vector (AAV) microdystrophin gene therapy prolongs survival and restores muscle function in the canine model of Duchenne muscular dystrophy (DMD) (2015) (2)
P.455 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trials (2017) (2)
G.P.92 Persistence and stability at 6months of AAV genome and dystrophin expression in GRMD dogs after forelimb delivery of a recombinant AAV carrying an exon skipping sequence (2014) (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)
The pediatric neurologist of the 21st century needs an encyclopedic mind. (2004) (2)
D11 Myostatin inhibition for neuromuscular disorders: defining the good candidate (2017) (2)
G.P.2.15 EUROSMART: European Spinal Muscular Atrophy Randomised Placebo-Controlled Trial of acetyl-L-carnitine in spinal muscular atrophy (2007) (2)
G.O.13 One year follow-up of Duchenne muscle dystrophy with nuclear magnetic resonance imaging and spectroscopy indices (2014) (2)
P.264SYROS study – long-term reduction in rate of respiratory function decline in patients with Duchenne muscular dystrophy treated with idebenone (2019) (2)
P.20.15 Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy (2013) (2)
D.P.3.09 Caveolinopathy – New mutations and additional symptoms (2008) (1)
Case 30-1997: pulmonary interstitial emphysema in infancy. (1998) (1)
P.205Daily life digital biomarkers for longitudinal monitoring of Duchenne muscular dystrophy with wearable sensors (2019) (1)
P.328 Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients (2016) (1)
Data-derived wearable digital biomarkers predict Frataxin gene expression levels and longitudinal disease progression in Friedreich’s Ataxia (2021) (1)
P07 Meganuclease-enhanced genome correction therapy for Duchenne muscular dystrophy (2012) (1)
P236Evaluation of safety and feasibility of Mybpc3 gene therapy in a mouse model of hypertrophic cardiomyopathy (2014) (1)
[Treatment results of modified Glorion-Rideau release in Duchenne muscular dystrophy]. (1995) (1)
P1.15 DNA micro-arrays for revisiting molecular pathology in neuromuscular disorders (2010) (1)
Isolated hypoglycorrhachia in a female newborn: an additional case of GLUT-1 deficiency (1999) (1)
503. Adeno-Associated Virus Vector (AAV) Microdystrophin Gene Therapy Prolongs Survival and Restores Muscle Function in the Canine Model of Duchenne Muscular Dystrophy (DMD) (2016) (1)
An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene (2005) (1)
G.P.1.10 DHPR α1 S subunit controls skeletal muscle mass and morphogenesis (2009) (1)
S.P.8 Validation of linear accelerations and angular velocities to estimate the efficacy of a subject when performing a quantified task in a controlled environment (2012) (1)
O-glycosylation defects with structural changes of the central nervous system – new members of the CDG family (2004) (1)
O7-4 Kelch-like homolog 9 (KLHL9) mutation is associated with an early onset autosomal dominant distal myopathy (2009) (1)
Serum Pro fi ling Identi fi es Novel Muscle miRNA and Cardiomyopathy-Related miRNA Biomarkers in Golden Retriever Muscular Dystrophy Dogs and Duchenne Muscular Dystrophy Patients (2014) (1)
O.14 Exon exchange approach to repair Duchenne dystrophin transcripts (2010) (1)
ACT DMD: Effect of Ataluren on Timed Function Tests (TFTs) in Nonsense Mutation Duchenne Muscular Dystrophy (P3.163) (2016) (1)
Exon skipping and PRO 044 in Duchenne muscular dystrophy : Extending the program (2013) (1)
Classic in neuropediatrics. (2001) (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)
P4.10 The relationship of ataluren plasma concentration and response across clinical studies in nonsense mutation dystrophinopathy (2011) (1)
COMBINED CYTOPLASMIC BODY AND REDUCING BODY MYOPATHY – A MIXED CONGENITAL MYOPATHY: 167 (1995) (1)
Genetic characterisation of multi-minicore disease: identification of a first locus and evidence for genetic heterogeneity (2001) (1)
D41 Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients (2018) (1)
Oral abstract presentations & Young Investigators Competition (2012) (1)
[Membrane changes in Duchenne/Becker muscular dystrophy: lectin binding and localization of dystrophin]. (1989) (1)
S.P.7 Validation trial of a movement Holter monitor based on accelerometry for the non-ambulatory neuromuscular patients (2012) (1)
Drisapersen treatment for Duchenne muscular dystrophy: results of a 96-week follow-up of an open-label extension study following two placebo-controlled trials (2014) (1)
TH.O.16 A new AAV10-mediated gene therapy for SOD1-linked ALS (2017) (1)
G.P.296 Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study (2015) (1)
Late-breaking Basic Science Abstracts from the American Heart Association's Scientific Sessions 2012 2012 Late-breaking Basic Science Abstracts Late-breaking Basic Science Oral Session 22925 Cardiac Myosin Binding Protein C Is an Ultra-early and Cardiac-specific Biomarker of Myocardial Necrosis Repl (2012) (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)
Molecular pathogenesis of X-linked dilated cardiomyopathy by stop-mutation and alternative splicing of the dystrophin exon 29 (1995) (1)
NEW THERAPEUTIC APPROACHES AND THEIR READOUT O.16Myostatin expression is a reliable and quantifiable biomarker to monitor dose-dependent drug response in muscular dystrophy (2018) (1)
Clinical and genetic features of five families with infantile-onset ascending Hereditary Spastic Paralysis (2006) (1)
Pooled Analyses of Efficacy Parameters in Patients with Duchenne Muscular Dystrophy (DMD): Results from the Drisapersen (DRIS) Clinical Trial Program (P2.240) (2015) (1)
A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia (2023) (1)
Compensatory trunk movements during functional tasks in patients with Duchenne muscular dystrophy (2016) (1)
G.P.320 Phenotypic heterogeneity of the c.919T>A FKRP gene mutation in humans and a mouse model (2014) (1)
Response to inhalative nitric oxide in a severely acidotic preterm newborn with lung hypoplasia (1996) (1)
Tricyclo-DNA phosphorothioate (2011) (0)
G.P.3 03 Novel nuclear encoded autosomal recessive mitochondriopathy (2006) (0)
Quantitative evaluation of locoregional high venous pressure rAAV 8-U 7-ESE 6-ESE 8 exon-skipping therapy in the GRMD dog using NMR 1 H imaging and 31 P spectroscopy (2012) (0)
P.1.21 Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl (2013) (0)
P.204Full-body behaviour analytics reveals DMD disease state within the first few steps of the 6-minute-walk test (2019) (0)
Drisapersen: An Overview of the Exon-51 Skipping Antisense Oligonucleotide Clinical Program to Date in Duchenne Muscular Dystrophy (DMD) (P2.230) (2015) (0)
G.P.11.07 Impairment of the endosomal/lysosomal system may contribute to muscle wasting in Pompe disease by altering the trafficking and processing of membrane stabilizing proteins (2008) (0)
495. In Vivo Evidence of trans-Splicing in a Humanized Mouse Model of Autosomal Dominant Retinitis Pigmentosa Induced By Mutation of the Rhodopsin Gene (2015) (0)
Impressum, Vol. 20, Supplement 1, 1993 (1993) (0)
M.P.3.06 Quantification of upper limb activity in non ambulant boys with Duchenne muscular dystrophy using accelerometry: A proof-of-concept study (2009) (0)
P.13.3 Serum miRNA profiling of GRMD dog identified novel cardiomyopathy biomarker candidates for DMD (2013) (0)
Dynamic [18F]2-FDG-PET-imaging in patients with GLUT1-deficiency syndrome before and on a ketogenic diet (2004) (0)
G.O.23 Drisapersen: An overview of the clinical programme to date in Duchenne Muscular Dystrophy (DMD) (2014) (0)
Antisense pre-treatment increases long-lasting benefit of gene therapy in dystrophic muscles (2015) (0)
559. Spell Checking Nature: A Therapeutic Use of the CRISPR/Cas9 System in Duchenne Muscular Dystrophy (2015) (0)
G.P.147 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials (2015) (0)
P3.31 SMN rescue by using Tc-DNA analogues prompting inclusion of exon 7 in SMN2 mRNA (2010) (0)
Two-component anti-corrosion paint, its use and process for its preparation (2005) (0)
Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1 (2017) (0)
Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein gene (2002) (0)
P1.50 Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophy (2011) (0)
Container for drying and processing of biological samples (2015) (0)
G.P.116 SCOPE-DMD, an EU FP7 funded consortium for skipping trail across Europe in Duchenne muscular dystrophy (2014) (0)
G.P.9.07 DNAJB2 gene expression in normal and diseased human and mouse skeletal muscle (2009) (0)
Mutational diversity andhotspotsinthe u-sarcoglycan gene inautosomal recessive muscular dystrophy (LGMD2D) (2011) (0)
G.P.8.13 Accelerometry, a new tool to assess gait quality in dystrophin-deficient dogs (2008) (0)
First International “Institute of Myology Workshop” on Facioscapulohumeral Muscular Dystrophy, Paris, May 22, 2007 (2008) (0)
Recent advances in the classification of congenital muscular dystrophies (1996) (0)
Consortium for Products Across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD). (2015) (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)
T.P.4.10 Towards a better understanding of truncated dystrophin instability (2009) (0)
Reply to Vianello et al. (2006) (0)
Lamin A/C gene related disorders: the EUROMEN consortium experience (2003) (0)
Poster Session 3 (2012) (0)
074 Long-term effect of idebenone in reducing respiratory function decline in patients with Duchenne muscular dystrophy (2022) (0)
Binding of Five Lectins to the Muscle Cell Plasma Membrane in Duchenne Dystrophy (1988) (0)
Home-based versus hospital monitoring of respiratory function changes in Duchenne muscular dystrophy (DMD) (2018) (0)
Immunohistochemical and ultrastructural findings in myofibrillar myopathies (2008) (0)
Obituary - Robert Surtees (2007) (0)
Développement d’un holter du mouvement basé sur l’accélérométrie pour l’évaluation clinique ambulatoire de l’activité physique des patients neuromusculaires non ambulants (2012) (0)
G.P.13.03 Can VLA-4 be applied as a biomarker for prognosis and therapeutic target in Duchenne muscular dystrophy? (2009) (0)
DMD – THERAPY P.285 In non-ambulatory DMD patients, one-year treatment benefit of idebenone in respiratory function extrapolates to 3-year delay in start of assisted ventilation (2020) (0)
D.P.3.01 Immunohistochemical and ultrastructural findings in myofibrillar myopathies (2008) (0)
UNCORRECTED PROOF 1 In-depth analysis of the secretome identifies three major 2 independent secretory pathways in differentiating (2012) (0)
D22 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials (2017) (0)
Mechanosensing Defects in Nuclear Envelope Related Disorders (2016) (0)
Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines (2016) (0)
Trans-splicing of Rhodopsin mRNA: Modeling and Therapeutic Strategy for Retinitis Pigmentosa (2012) (0)
G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine (2009) (0)
Ubiquitin-Proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch protein (2006) (0)
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach (2014) (0)
G.P.114 Evaluation of efficacy and safety baseline parameters in patients with Duchenne muscular dystrophy (DMD) from three placebo-controlled studies of drisapersen (DRIS) (2014) (0)
Das therapeutische Repertoir bei Schlafstörungen im Kindesalter: I. Allgemeine Grundsätze und medikamentöse Therapie Therapy of sleep disturbances in childhood and adolescence: I. Principles and pharmacologic therapy (2008) (0)
Poster session 3 (2001) (0)
The same metallic paint process for its preparation and uses (2007) (0)
G.P.30 A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy (2015) (0)
P.20.12 Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors: Patterns of dystrophin expression and histological improvements (2013) (0)
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.314Kinematic/behavioural fingerprints in Duchenne muscular dystrophy and their clinical applications (2018) (0)
G.P.49 The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy (2015) (0)
P.20.13 Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors: Exon skipping and microdystrophin approaches in GRMD dogs (2013) (0)
an exon skipping strategy using AAV8-U7snRNA vectors for the treatment of Duchenne muscular dystrophy - results in GRMD dogs and clinical perspectives. (2012) (0)
P.329 Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials (2016) (0)
SEPN1 mutations cause classical multi-minicore disease: reappraising the nosology of early-onset myopathies (2002) (0)
Downregulation of microRNA-29, -23, and -21 in urine of Duchenne Muscular Dystrophy patients (2018) (0)
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches (2017) (0)
Correlations between strength and functional tests at baseline for the dominant (D) and the non-dominant (ND) sides. (2015) (0)
S05 Myostatin expression in neuromuscular diseases (2018) (0)
An apparatus for processing of biological material (2006) (0)
Systemic Delivery of Self-Complementary AAV2/9 Vectors in Adult Mice Results in Efficient Transduction of the Retina (2010) (0)
P23 SCOPE-DMD (Exon Scipping COnsortium for Products across Europe in Duchenne Muscular Dystrophy) (2014) (0)
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy (2019) (0)
T.O. 5 Lack of myostatin results in satellite independent muscle fibre hypertrophy and mitochondrial depletion (2006) (0)
G.P.12 Childhood Pompe disease: Clinical spectrum and genotype in 31 children (2015) (0)
NMR STUDIES IN THALAMIC-STRIATAL NECROSIS (1985) (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)
Rapid Communication Xp2l Dystrophin and 6q Dystrophin-related Protein Comparative Immunolocalization Using Multiple Antibodies (2007) (0)
G.P.39 An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy (2014) (0)
Idebenone Reduces Loss of Respiratory Function in Duchenne Muscular Dystrophy - Outcome of a Phase III Double Blind, Randomised, Placebo-Controlled Trial (DELOS) (PL2.003) (2015) (0)
Ultrastructural Localisation Of Ricinus Communis-I Lectin To Skeletal Muscle From Foetuses At High Risk For Duchenne Muscular Dystrophy (1987) (0)
G.P.93 Entry and intracellular trafficking of adeno-associated viral 8 (AAV8) vector in DMD muscular cells (2014) (0)
P.6.1 Clinical and upper limb evaluation at one year of non-ambulant patients with spinal muscular atrophy (2013) (0)
Vector 1 (rAAV-1) and rAAV-6 in Mice Recombinant Adeno-Associated Virus Efficient Systemic Transduction of C-Reactive Protein (CRP) Is Essential for (2014) (0)
P.203Towards high-resolution clinical digital biomarkers for Duchenne muscular dystrophy (2019) (0)
PO195 Outcome measures for duchenne muscular dystrophy: implications for trials (2017) (0)
P.13.6 Nuclear Magnetic Resonance imaging and spectroscopy provide quantitative indices of disease severity in forearms of boys with Duchenne Muscle Dystrophy (2013) (0)
G.P.115 Pooled analyses of efficacy parameters in patients with Duchenne muscular dystrophy (DMD): Results from the drisapersen (DRIS) clinical trial programme (2014) (0)
Biliary atresia as initial manifestation of Niemann Pick C1 disease (2006) (0)
146 Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study (1999) (0)
P2.10 A new form of congenital muscular dystrophy with subsarcolemmal inclusions arising from disintegrated myonuclei (2011) (0)
Caveolinopathy - New mutations and additional symptoms q (2008) (0)
T.I.3 Perspectives on microdystrophins and delivery (2013) (0)
G.O.22 Serum and urine proteomic profiling reveals biomarkers suitable for monitoring the outcome of therapeutic interventions in muscular dystrophies (2015) (0)
C.P.1.08 A homozygous deletion of TPM3 causing severe nemaline myopathy in two Turkish sib pairs from separate families (2007) (0)
P.450 Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure (2017) (0)
AAV gene therapy for Alzheimer disease: Consequences of AAV-mediated CHOLESTEROL 24-HYDROXYLASE overexpression in THY-TAU22 mouse model (0)
An evaluation of the distal upper extremity skills of an individual (2012) (0)
A Specific Superoxide Dismutase Mutation Is on the Same Genetic Background in Sporadic and Familial Cases of Amyotrophic Lateral Sclerosis (2007) (0)
VP.24 T Cell-mediated immune response to dystrophin in Duchenne muscular dystrophy - A natural history study (2022) (0)
DMD CLINICAL THERAPIES II P.134Comparing home-based respiratory function monitoring to hospital-based spirometry in Duchenne muscular dystrophy (2018) (0)
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy (2015) (0)
Flaky effect pigment comprising a copper-containing coating, process for its preparation and use thereof (2012) (0)
143. Off-Target Analysis of a rAAV-U7snRNA Vector Used for the Treatment of Duchenne Patients By Exon Skipping (2015) (0)
Genetic, allelic and phenotypic heterogeneity of muscular dystrophies with primary and secondary involvement of adhalin (alpha-sarcoglycan) (1996) (0)
NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age (2015) (0)
A Kelch protein is mutated in a novel amosomal dominant distal myopathy (2005) (0)
SMN rescue by using oligonucleotides of tricyclo-DNA to induce exon 7 inclusion in SMN2 mRNA (2012) (0)
DNAJB2 gene expression in normal and diseased human and mouse skeletal muscle (2009) (0)
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy (2023) (0)
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. (2022) (0)
P1.47 CD49d is a disease biomarker and a potential therapeutic target in Duchenne muscular dystrophy (2011) (0)
I-13Muscle ryanodine receptor in congenitalmyopathies and channelopathies. (2011) (0)
O.11 Personalized therapy in Duchenne muscular dystrophy: An integrated approach (2013) (0)
DNA phosphorothioate tricyclo (2011) (0)
Novel nuclear encoded autosomal recessive mitochondriopathy (2006) (0)
G.P.401 Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids (2015) (0)
O.4 Forelimb loco-regional injection of rAAV8-U7snRNA in GRMD dogs allows dose-dependant dystrophin expression and phenotypic correction (2011) (0)
G.P.16.01 Expression of myogenic regulatory factors and myo-regeneration in inflammatory myopathies (2009) (0)
G.P.7.05 Prognosis of neonatal onset nemaline myopathy without molecular diagnosis (2009) (0)
P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2006) (0)
T.P.1.05 Trans-splicing approaches to repair Duchenne dystrophin transcripts (2009) (0)
D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes (2012) (0)
P.20.8 AAV genome loss from dystrophic mouse muscles during AAV-U7snRNA-mediated exon skipping therapy (2013) (0)
Contents, Vol. 2, 1992 (1982) (0)
Congenital myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a new clinico-pathological entity (2010) (0)
D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders (2012) (0)
P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials (2014) (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)
Pediatric neurology on the threshold of a new millenium (1999) (0)
T.I.2 Prospects of AAV-mediated gene therapy for neuromuscular disease (2010) (0)
DMD – ANIMAL MODELS EP.84 Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy (2021) (0)
G.P.15.12 Dux4 over-expression in normal mouse: Generation of a mouse model with an FSHD phenotype? (2009) (0)
MLO01 Combined N-and O-glycosylation defect in two sibs: new CDG IIx syndrome (2007) (0)
Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark (2004) (0)
P.228 Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy (2016) (0)
Welcome to the World Muscle Society Congress in Saint Malo (2017) (0)
Towards an Empirically Based Gamification Pattern Language using Machine Learning Techniques (2020) (0)
Special techniques in diagnostic myopathology. (1994) (0)
Apparatus for delivering substances pipeteables (2008) (0)
Workshop report Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2014) (0)
I-13 Muscle ryanodine receptor in congenital myopathies and channelopathies (2011) (0)
O.18 Intravenous injection of SMN1-expressing self-complementary AAV9 rescues severe type I SMA mice (2010) (0)
Device for evaluating the distal motricity of the upper members of an individual (2012) (0)
D42 Myostatin is a reliable biomarker for monitoring drug response in DMD (2018) (0)
G.P.3.14 No evidence for increased muscle regeneration in myostatin deficient mdx mice (mstn-/-mdx) (2007) (0)
Two-component anti-corrosion paint, its use and process for its manufacturing (2006) (0)
P40 BIOIMAGE-NMD (BIOIMAGE-Neuromuscular Diseases) (2014) (0)
T.P.13 Upper limb performance changes during a one-year follow-up in non-ambulant patients with Duchenne muscular dystrophy (2014) (0)
EC.O.4 Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches (2017) (0)
Duplication of dystrophin exon 18 in a DMD patient with mental retardation (1997) (0)
D.08 ACT DMD (Ataluren Confirmatory Trial in Duchenne Muscular Dystrophy): effect of Ataluren on timed function tests (TFT) in nonsense mutation (nm) DMD (2016) (0)
P.20.11 Dystrophin rescue needed to recover a correct location of nNOS and the return to a normalized RyR1 status in treated GRMD dogs (2013) (0)
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy (2020) (0)
EP.87MYODA clinical program: composite score for assessing the efficacy of BIO101 (MAS activator) in ambulatory and non-ambulatory Duchenne boys (2019) (0)
An autosomal recessive distal myopathy with cardiac involvement linked to 9p-q1 in Bulgarian gypsies (2003) (0)
Evaluation of Efficacy and Safety Baseline Parameters in Patients with Duchenne Muscular Dystrophy (DMD) from Three Placebo-Controlled Studies of Drisapersen (DRIS) (P6.255) (2015) (0)

This paper list is powered by the following services:

What Schools Are Affiliated With Thomas Voit?

Thomas Voit is affiliated with the following schools:

Thomas Voit's Academic­Influence.com Rankings