Katherine M.d Bushby

Q: What Schools Are Affiliated With Katherine M.d Bushby

Katherine M.d Bushby is affiliated with the following schools: Newcastle University, University of Newcastle

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Katherine M.d Bushby'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

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation (2002) (854)
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B (1998) (635)
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)
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations (2015) (456)
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. (2009) (435)
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (2007) (394)
Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival (2007) (308)
107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands (2003) (287)
Dysferlin is a plasma membrane protein and is expressed early in human development. (1999) (277)
The importance of genetic diagnosis for Duchenne muscular dystrophy (2016) (226)
SOX2 anophthalmia syndrome (2005) (224)
Collagen VI related muscle disorders (2005) (223)
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B (1999) (204)
Making sense of the limb-girdle muscular dystrophies. (1999) (197)
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. (2011) (197)
Calpainopathy-a survey of mutations and polymorphisms. (1999) (181)
The phenotype of limb-girdle muscular dystrophy type 2I (2003) (181)
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies (2010) (177)
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. (1994) (173)
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)
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. (2007) (162)
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion (2010) (159)
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation (2008) (158)
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. (1999) (157)
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. (2011) (157)
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy (2005) (157)
Limb‐girdle muscular dystrophies – from genetics to molecular pathology (2004) (155)
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures (2005) (154)
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study (2013) (153)
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations (2010) (152)
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)
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) (2000) (142)
30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995 (1995) (140)
Muscle histology vs MRI in Duchenne muscular dystrophy (2011) (139)
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy (2013) (135)
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy (2001) (134)
117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands (2004) (129)
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (2006) (126)
Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. (2011) (125)
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limbgirdle dystrophies (1995) (120)
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy (2005) (119)
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)
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)
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps (2003) (116)
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy (1993) (107)
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I (2004) (107)
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies (2007) (107)
Diagnosis and management of the limb girdle muscular dystrophies (2009) (107)
Limb-girdle muscular dystrophies. (2008) (106)
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database (2017) (105)
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies (2015) (104)
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy (2011) (103)
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)
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy (2009) (99)
Corticosteroids in Duchenne muscular dystrophy: Major variations in practice (2013) (99)
Dysferlin associates with the developing T‐tubule system in rodent and human skeletal muscle (2010) (99)
The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia (2013) (98)
DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY (1995) (96)
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool (2017) (96)
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (2008) (95)
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. (2004) (95)
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy (1993) (95)
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation (2010) (91)
The limb-girdle muscular dystrophies--proposal for a new nomenclature. (1995) (90)
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials (2010) (89)
The multidisciplinary management of Duchenne muscular dystrophy (2005) (89)
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands (2002) (88)
Collagen type VI myopathies. (2014) (86)
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. (2000) (86)
New aspects on patients affected by dysferlin deficient muscular dystrophy (2009) (85)
Mutations in the nebulin gene can cause severe congenital nemaline myopathy (2002) (82)
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network (2013) (82)
Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports (1998) (81)
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy (2014) (81)
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations (2012) (80)
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants (2014) (80)
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy (2009) (79)
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. (2006) (79)
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations (2001) (79)
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach (2001) (79)
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study (2014) (79)
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy (2016) (79)
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance (2008) (78)
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (2005) (77)
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands (2005) (77)
A refined diagnostic algorithm for Bethlem myopathy (2008) (76)
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe (2013) (76)
Severe phenotype in infantile facioscapulohumeral muscular dystrophy (2006) (75)
Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months (2013) (75)
Congenital Titinopathy: Comprehensive characterization and pathogenic insights (2018) (75)
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. (2014) (74)
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure (2013) (74)
The third human FER-1-like protein is highly similar to dysferlin. (2000) (72)
Muscle MRI findings in limb girdle muscular dystrophy type 2L (2012) (72)
Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention (2005) (70)
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy (2015) (69)
Endocrine Aspects of Duchenne Muscular Dystrophy (2011) (69)
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). (2008) (68)
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review (2014) (68)
Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype? (2008) (67)
Contrasting effects of steroids and angiotensin‐converting‐enzyme inhibitors in a mouse model of dystrophin‐deficient cardiomyopathy (2009) (67)
Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. (2000) (67)
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period (2017) (67)
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials (2018) (66)
Abnormalities in α-, β- and γ-sarcoglycan in patients with limb-girdle muscular dystrophy (1996) (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)
MR imaging in Duchenne muscular dystrophy: Quantification of T1‐weighted signal, contrast uptake, and the effects of exercise (2009) (65)
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. (2014) (65)
Late onset in dysferlinopathy widens the clinical spectrum (2008) (64)
Dysferlin‐deficient muscular dystrophy features amyloidosis (2008) (64)
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation (2001) (62)
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy (2013) (61)
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display (2005) (61)
Correction of Neuromuscular Scoliosis in Patients With Preexisting Respiratory Failure (2006) (59)
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission (2016) (58)
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy (1993) (58)
Minicore myopathy in children: a clinical and histopathological study of 19 cases (2000) (58)
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002 (2003) (58)
Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. (2016) (57)
Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. (1993) (56)
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations (2011) (56)
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. (1996) (56)
Caveolinopathy – New mutations and additional symptoms (2008) (56)
Becker muscular dystrophy with onset after 60 years (1994) (56)
Short stature and pubertal delay in Duchenne muscular dystrophy (2015) (55)
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. (2017) (55)
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 (2002) (54)
Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction? (1999) (54)
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. (1998) (53)
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy (2005) (51)
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy (1996) (51)
Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. (2012) (51)
Molecular treatments in Duchenne muscular dystrophy. (2010) (50)
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies (2001) (50)
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice (2006) (49)
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. (1996) (49)
Survey of behaviour problems in children with neuromuscular diseases. (2006) (48)
Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database. (2019) (47)
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients (2014) (46)
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences (2016) (46)
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy (2017) (45)
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice (2005) (45)
Interventions for muscular dystrophy: molecular medicines entering the clinic (2009) (44)
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. (2012) (44)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017) (43)
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study (2004) (43)
170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27–29 November 2009, Naarden, The Netherlands (2010) (42)
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2015) (42)
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A) (1997) (42)
Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study (2013) (42)
Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK (2006) (40)
The Clinical Outcome Study for dysferlinopathy (2016) (40)
Kennedy's disease: Unusual molecular pathologic and clinical features (1998) (39)
Oculopharyngodistal myopathy is a distinct entity (2011) (38)
The limb-girdle muscular dystrophies--diagnostic strategies. (2007) (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)
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. (2009) (37)
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases (2013) (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)
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. (1997) (36)
Hereditary Vascular Dementia Linked to Notch 3 Mutations: CADASIL in British Families (2000) (35)
The childhood limb-girdle muscular dystrophies. (2006) (35)
Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease. (2002) (34)
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease (2015) (34)
Muscular dystrophy in dysferlin-deficient mouse models (2013) (34)
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains (2017) (34)
CHLAMYDIA INFECTION (2001) (34)
206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014 (2015) (34)
157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands (2008) (33)
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. (2014) (33)
Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations. (2009) (33)
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities (2013) (32)
Patients' forum Transition to adulthood for young men with Duchenne muscular dystrophy: Research from the UK (2012) (32)
CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND) (1997) (32)
Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands (2002) (32)
Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. (2008) (32)
Dysferlin and muscular dystrophy. (2000) (31)
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks (2016) (31)
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands (2010) (30)
A novel autosomal dominant distal myopathy with early respiratory failure: Clinico‐pathologic characteristics and exclusion of linkage to candidate genetic loci (2001) (30)
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry (2004) (30)
66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands (1999) (30)
Duchenne Muscular Dystrophy: Advances in Therapeutics (2006) (29)
Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. (1992) (29)
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. (2010) (28)
The clinical outcome study for dysferlinopathy : An international multicenter study (2019) (28)
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy (2016) (28)
Report on the 12th ENMC Sponsored International Workshop — The “Limb-Girdle” Muscular Dystrophies (1992) (28)
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy (2008) (28)
Duchenne Muscular Dystrophy (1994) (28)
Investigation of mitochondrial function in hereditary spastic paraparesis (2003) (27)
Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A (2009) (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)
Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy (2008) (25)
The Golden Freeway: a preliminary evaluation of a pilot study advancing information technology as a social intervention for boys with Duchenne muscular dystrophy and their families. (2004) (25)
Phenotypic variability of TRPV4 related neuropathies (2015) (25)
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands (2004) (25)
Two recurrent mutations are associated with GNE myopathy in the North of Britain (2014) (25)
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. (2011) (25)
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy (2017) (25)
How to go about diagnosing and managing the limb-girdle muscular dystrophies. (2008) (24)
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family (2015) (24)
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development (2015) (23)
The limb-girdle muscular dystrophies. (2001) (23)
Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy (2015) (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 checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial (2018) (21)
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK (2015) (21)
Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries (2017) (21)
Continued need for caution in the diagnosis of Duchenne muscular dystrophy (2005) (21)
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? (2011) (21)
145th ENMC International Workshop: Planning for an International Trial of Steroid Dosage Regimes in DMD (FOR DMD) 22–24th October 2006, Naarden, The Netherlands (2007) (21)
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)
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy (2016) (19)
Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. (1996) (19)
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure (2005) (19)
P3.51 Results of a Phase 2b, dose-ranging study of ataluren (PTC124®) in nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) (2010) (19)
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study (2018) (19)
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. (2022) (18)
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I (2013) (18)
Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies (2008) (18)
Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy (2015) (18)
Nonmolecular treatment for muscular dystrophies (2005) (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)
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G (2015) (17)
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility* (2016) (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)
G.O.14 The burden of Duchenne muscular dystrophy: An international, cross-sectional study (2014) (15)
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene (2011) (15)
Dystrophin expression in Duchenne patients with "in-frame" gene deletions. (1993) (15)
Social deprivation in Duchenne muscular dystrophy: population based study (2001) (15)
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy (2018) (15)
Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND) (2003) (14)
Recent advances in understanding muscular dystrophy. (1992) (14)
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome (2020) (14)
Intolerance to β‐blockade in a mouse model of δ‐sarcoglycan‐deficient muscular dystrophy cardiomyopathy (2010) (14)
A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy (2017) (14)
Aup1, a novel gene on mouse chromosome 6 and human chromosome 2p13. (1996) (13)
The limb-girdle muscular dystrophies: diagnostic guidelines. (1999) (13)
Validation of genetic modi fi ers for Duchenne muscular dystrophy : a multicentre study assessing SPP 1 and LTBP 4 variants (2014) (13)
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes (2018) (13)
Assessment of disease progression in dysferlinopathy (2019) (12)
Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy (2004) (12)
Serum Peptide Profiles of Duchenne Muscular Dystrophy (DMD) Patients Evaluated by Data Handling Strategies for High Resolution Content (2012) (12)
Limb‐girdle muscular dystrophy: a follow‐up study of 79 patients (1996) (11)
Towards the classification of the autosomal recessive limb-girdle muscular dystrophies (1996) (11)
Calpainopathy presenting as foot drop in a 41 year old (2010) (11)
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? (2009) (11)
One gene, one or many diseases? (2010) (11)
State-Of-The-Art Advances in Duchenne Muscular Dystrophy (2017) (11)
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2 I : A Multinational Cross-Sectional Study (2014) (10)
Recent developments in the management of Duchenne muscular dystrophy (2011) (10)
Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection. (1998) (10)
Limb-girdle muscular dystrophy: A follow-up study of 79 patients (1996) (10)
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. (2004) (9)
Characterisation of the dysferlin skeletal muscle promoter (2004) (9)
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion (2016) (9)
104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies, 8–10th March 2002 in Naarden, The Netherlands (2002) (9)
Assessment of disease progression in dysferlinopathy A 1-year cohort study (9)
Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism. Neuromuscul Disord (2009) (8)
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease (2021) (8)
T.P.5.01 Phase 2b Study of PTC124 in Duchenne/Becker muscular dystrophy (DMD/BMD): Demographic and other baseline data (2008) (8)
The muscular dystrophies. (1994) (8)
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)
Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis (2013) (6)
Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy (2022) (6)
Bisphosphonate use in Duchenne Muscular Dystrophy – why, when to start and when to stop? (2016) (5)
172nd ENMC International Workshop: Dysferlinopathies 29–31 January 2010, Naarden, The Netherlands (2011) (5)
Emotional impact of a paediatric exon‐skipping therapy trial (2011) (5)
A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis (2016) (5)
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy (2014) (5)
G.P.4.15 CAPN3 mutations in patients with idiopathic eosinophilic myositis: A predystrophic stage of LGMD2A? (2007) (4)
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy (2020) (4)
Recent advances in paediatric muscular dystrophies (2004) (4)
Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion? (1997) (4)
G.P.8.12 Molecular characterization and clinical update on one of the earliest described families with severe childhood autosomal recessive muscular dystrophy (SCARMD) (2007) (3)
How reference networks develop, implement, and monitor guidelines (2012) (3)
Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy (1997) (3)
Congenital arthrogryposis and dilated cardiomyopathy associated with a R644C substitution in the Lamin A/C gene (2006) (3)
The molecular biology of LGMD2B — Towards the identification of the LGMD gene on chromosome 2p13 (1996) (3)
Titinopathies: what happens when a big gene mutates in a big family? (2005) (3)
Symposium: neurologyRecent developments in the management of Duchenne muscular dystrophy (2011) (3)
Understanding the heterogeneity of the limb-girdle muscular dystrophies. (1996) (3)
Microvascular Pathology in Familial Multiinfarct Dementia or CADASIL: Implications for Cerebral Blood Flow (2001) (3)
200th ENMC International Workshop “European Reference Networks: Recommendations and Criteria in the Neuromuscular field”, 18–20 October 2013, Naarden, the Netherlands (2014) (3)
Progression of fat infiltration in calf, thigh and pelvic muscles in Duchenne Muscular Dystrophy: quantification by MRI over an 18 month period (2009) (3)
Refinement of the laminin a2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy (3)
Preventing cardiomyopathy in DMD: A randomized, placebo-controlled drug-trial (2020) (3)
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study (2022) (2)
P.15.7 A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure (2013) (2)
G.P.12.10 Delayed development and learning difficulties as a predominant symptom in female carriers of Duchenne and Becker muscular dystrophy (2008) (2)
Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies (2015) (2)
Differential gene expression in a cell culture model of SOD 1-related familial motor neurone disease (2002) (2)
IMPROVED SURVIVAL IN PATIENTS WITH SCOLIOSIS SECONDARY TO DUCHENNE MUSCULAR DYSTROPHY: THE ROLE OF SPINAL SURGERY AND NOCTURNAL VENTILATION (2004) (2)
Genetics and the muscular dystrophies. (2000) (2)
Chapter 125 – Muscular Dystrophies (2013) (2)
Neuromuscular diseases: milestones in development of treatments (2011) (2)
G.P.13.11 Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy (2009) (2)
Erratum to The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy (1993) (2)
G.P.161 Improving the diagnosis of Duchenne muscular dystrophy (2014) (2)
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy (2020) (2)
P.161 North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy (2017) (2)
Becker and Duchenne muscular dystrophy: a two-way information process for therapies (2013) (2)
Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Center Network (P04.084) (2012) (2)
G.P.13.05 The diagnosis and management of Duchenne muscular dystrophy: Internationally generated care recommendations (2009) (1)
Chapter 9 Skeletal muscle disorders (1996) (1)
Respiratory and cardiac involvement are a primary part of limb-girdle muscular dystrophy 2I (2002) (1)
G.P.6.02 MRI in Duchenne muscular dystrophy: Tracking progression (2008) (1)
Water T2 could predict functional decline in patients with dysferlinopathy (2022) (1)
G.P.13.10 Early cardiomyopathy in DMD (2009) (1)
Vision DMD: Vamorolone (VBP15) drug development program for Duchenne muscular dystrophy (2017) (1)
D02 Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy (2018) (1)
Current care practice in Duchenne muscular dystrophy in Europe – results of the CARE-NMD cross-sectional survey (2013) (1)
UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms (1999) (1)
Workshop report Endocrine Aspects of Duchenne Muscular Dystrophy (2011) (1)
097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM) (2012) (1)
P.2.4 Upper extremity reachable workspace evaluation in DMD using Kinect (2013) (1)
P.7 Clinical outcome study for dysferlinopathy: One-year follow-up (2016) (1)
Comparison of strength testing modalities in dysferlinopathy (2022) (1)
P1.33 Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy (2011) (1)
O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies (2013) (1)
G.P.12.07 Cardiac involvement in manifesting female carriers of Duchenne and Becker muscular dystrophy (2008) (1)
Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally (2010) (1)
Molecular genetics of chromosome 2-linked LGMD (1996) (1)
Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling. (1996) (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)
T.P.37 Old measures and new analysis in non ambulant SMA patients (2014) (1)
P.15.6 Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis (2013) (1)
G.P.285 TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders) (2015) (1)
Genotype-phenotype correlation in Bethlem myopathy (2002) (1)
C.P.3.06 Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies (2007) (1)
G.P.2.11 Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of FKRP (2008) (1)
D03 Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients? (2018) (1)
European Reference Networks: developing a EUCERD opinion (2012) (1)
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy (2021) (1)
Impact of three decades of improvements in standards of care on clinical outcomes in Duchenne muscular dystrophy (2017) (1)
D.P.3.09 Caveolinopathy – New mutations and additional symptoms (2008) (1)
P4.10 The relationship of ataluren plasma concentration and response across clinical studies in nonsense mutation dystrophinopathy (2011) (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)
G.P.9.07 MRI in Duchenne muscular dystrophy: Quantification of fat infiltration and gadolinium uptake using whole-muscle regions of interest (2007) (0)
P.118 Growth patterns and fractures in boys with Duchenne muscular dystrophy: Insights from over 800 boys in the UK North Star cohort (2016) (0)
Fracture incident rate and growth in a nationwide cohort of boys with Duchenne Muscular Dystrophy (2017) (0)
G.P.4.06 Dysferlinopathy with very late onset and untypical clinical presentation (2007) (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)
The phenotype of chromosome 2P-linked limb-girdle muscular dystrophy (1996) (0)
Towards the classification of LGMD (1996) (0)
Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429) (2018) (0)
Rapid direct sequence analysis of the three genes encoding collagen VI (2003) (0)
LIMB-GIRDLE MUSCULAR DYSTROPHY I P.8Clinical outcome study for dysferlinopathy: three years of natural history data for clinical trial readiness (2018) (0)
Functional outcome measures and muscle MRI pattern recognition in dysferlinopathy: The JAIN COS Study (2017) (0)
Investigating collagen VI biosynthesis and assembly in the context of deficient ALG2; a novel gene identified in a CMS family originally diagnosed with Ullrich’s CMD. (2013) (0)
NSAA Rasch 2011 (2015) (0)
A.P.6 Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations (2014) (0)
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome (2013) (0)
I-13Muscle ryanodine receptor in congenitalmyopathies and channelopathies. (2011) (0)
1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome (2012) (0)
SOX2 anophthalmia syndrome. Commentary (2005) (0)
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy (2023) (0)
A common founder mutation in FKRP causes limb girdle muscular dystrophy type 21 (LGMD21) in both Hutterite and European populations (2003) (0)
M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry (2009) (0)
Case report Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy (2014) (0)
G.P.4.12 Analysis of the diagnostic strategy for limb girdle muscular dystrophy 2A in the UK (2007) (0)
Headache: new genes, new mechanisms, and new therapies (2011) (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)
S.P.46 Rare disease policies: An important perspective for neuromuscular disorders (2012) (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)
Caveolinopathy - New mutations and additional symptoms q (2008) (0)
G.P.377 NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (2015) (0)
T.P.2.07 Attenuation of adverse effects of prednisolone on δ-sarcoglycan-deficient cardiomyopathy by mineralocorticoid-receptor-antagonism (2009) (0)
S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey (2012) (0)
Muscular dystrophy (2020) (0)
D20 Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy (2017) (0)
Policy view Cooperation among stakeholders to overcome challenges in orphan medicine development : the example of Duchenne muscular dystrophy (2016) (0)
G.P.247 International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patients (2014) (0)
Management of Duchenne Muscular Dystrophy in the Community: Views of Physiotherapists, GPs and School Teachers (1996) (0)
G.O.4 Neuromuscular junction formation in Dok-7 deficient zebrafish embryos (2008) (0)
Definition of the phenotype in limb-girdle muscular dystrophy (LGMD) 2A, (calpainopathy) (1999) (0)
P.7.16 One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infant and Toddler Development (2013) (0)
S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy (2012) (0)
P1.25 Muscle protein profile in Anoctaminopathies (2010) (0)
I-13 Muscle ryanodine receptor in congenital myopathies and channelopathies (2011) (0)
Chapter 26. Limb Girdle Muscular Dystrophies (2008) (0)
G.P.4.08 Dysferlin in muscle regeneration (2007) (0)
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (2012) (0)
The international clinical outcome study in dysferlinopathy (2017) (0)
M.P.1.15 A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations (2007) (0)
Cornea Farinata and other Variants (2009) (0)
G.P.10.02 Does δ-sarcoglycan-associated autosomal dominant cardiomyopathy exist? (2009) (0)
Limb girdle muscular dystrophy 21 is predominantly associated with a Leu276Ile mutation in the fukutin related-protein gene (2002) (0)
G.P.8 07 Phenotypic variability associated with desmin gene mutations (2006) (0)
Strong correlation between 6 minute walk distance (6MWD) and hamstring average fat fraction, r = −.79 (p<0.01). (2014) (0)
New in clinical genetics: Diagnostic approaches in patients with congenital myopathies and musuclar dystrophies (2003) (0)
3 AHNAK , a novel component of the dysferlin protein complex , redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration (2006) (0)
P82 Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) genes' mutations are not associated with sporadic inclusion body myositis (sIBM) (2012) (0)
Revised Hammersmith Scale (2018) (0)
The limb-girdle muscular dystrophies [directory]. (1999) (0)
P.111 Patient's perception around disease progression and influential factors in spinal muscle atrophy (2017) (0)
P.8 Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy (2016) (0)
Louise Anderson (1953–2005) (2005) (0)
The functional involvement of lamin A and LAPa in human ageing: the role for lamina protein redox modifications in senescence signaling (2007) (0)
Title: Phenotypic variability of TRPV4 related neuropathies (2015) (0)
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy (2011) (0)
G.P.280 Preserved expression of truncated telethonin in a patient with LGMD2G (2014) (0)
Response to letter from Bernardi (2009) (0)
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle (2014) (0)
P.160 Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy (2017) (0)
LIMB-GIRDLE MUSCULAR DYSTROPHY I P.11Clinical outcome study in dysferlinopathy: random forest approach to assess the relationship between baseline muscle MRI and longitudinal functional outcome measures (2018) (0)
Myoglobinuria in steroid-treated Duchenne muscular dystrophy (2007) (0)
G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis (2008) (0)
RESPIRATORY RECOMMENDATIONS FROM THE CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC) CARE CONSIDERATIONS INITIATIVE ON DUCHENNE MUSCULAR DYSTROPHY (2009) (0)
Losartan improves muscle strength and ameliorates fibrosis in the dy 2 J / dy 2 J mouse model of merosin deficient congenital muscular dystrophy (2010) (0)
P.5.9 Clinical and molecular analysis of a large cohort of patients with anoctaminopathy (2013) (0)
On the classification, natural history and treatment of the myopathies' 50 years on: population study of muscle disease in the Northern region of England (2005) (0)
DMD/BMD - GENETICS EP.116 Establishing clinical and genetic characteristics in young, glucocorticoid-naïve boys with Duchenne muscular dystrophy: the FOR DMD study (2021) (0)
G.P.6.01 Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy (2008) (0)
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3 (2004) (0)
A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes (2002) (0)
P1.24 Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy (2010) (0)
G.P.15.01 Transition to adulthood for young men with DMD (2008) (0)
P4.26 Assessing muscle pathology by MRI in LGMD2I (2010) (0)
P4.27 Muscle MRI findings in anoctaminopathy (2010) (0)
G.P.29 Revised Hammersmith scale for spinal muscular atrophy (2015) (0)
G.P.8.05 Muscle biopsy immunoanalysis and genetic outcome (2007) (0)
LIMB-GIRDLE MUSCULAR DYSTROPHY I P.13Rasch analysis of the individualised neuromuscular Quality of Life Questionnaire administered to patients with dysferlinopathy (2018) (0)
Diagnosis and management of the limb girdle muscular (2009) (0)
G.P.404 The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis (2015) (0)
P.162 Does the performance of upper limb capture functional variations in dysferlinopathy? (2017) (0)
P88 MRI in LGMD2I: a qualitative and quantitative analysis using the 3 point Dixon technique (2010) (0)
Fracture incident rate and growth in a nationwide cohort of boys with Duchenne muscular dystrophy (Presented on behalf of The UK North Star Clinical Network) (2017) (0)
Dried Blood Spot Testing—The Newcastle Experience Over a Twelve Month Period (2011) (0)
G.P.10.09 Mitochondrial dysfunction in dysferlinopathy (2008) (0)
P71 International clinical outcomes study in dysferlinopathy (COS): results of screening questionnaires in UK patients (2014) (0)
P1.34 Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD) (2011) (0)
Cooperation among stakeholders to overcome challenges in orphan medicine development : the example of Duchenne muscular dystrophy (2016) (0)
165 Novel ANO5 gene mutations, c.989dupT and c.2018A→G causing Limb Girdle Muscular dystrophy 2L (2012) (0)
LIMB-GIRDLE MUSCULAR DYSTROPHY I P.12Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients (2018) (0)
D29 Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials (2017) (0)
P.49 Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort (2016) (0)
Phenotype and genotype of spinal muscular atrophy with respiratory distress type 1 (2003) (0)
G.P.155 Preparation of a disease specific functional measure suitable for trials in dysferlinopathy (2015) (0)
P4.64 Monitoring care practices for Duchenne Muscular Dystrophy – the CARE-NMD project (2011) (0)
Joint meeting of the Association of British Neurologists and the Norwegian Neurological Association on the coastal steamer Hurtigruten, 6-9 May 2001 (2001) (0)
Ullrich-like congenital muscular dystrophy without linkage to collagen VI (2002) (0)
SPINAL DEFORMITY CORRECTION IN PATIENTS WITH NEUROMUSCULAR SCOLIOSIS ON VENTILATORY SUPPORT FOR RESPIRATORY FAILURE (2005) (0)
Calpain 3 proteolysis regulates AHNAK turnover and prevents its interaction with dysferlin and myoferlin (2006) (0)
P74 Improving standards of care and translational research in spinal muscular atrophy (SMA) – functional scales (2014) (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.437 Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients? (2017) (0)
G.P.14.13 Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene (2008) (0)
P4.17 Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse (2011) (0)
Workshop report Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy (2014) (0)
LGMD EP.182 Quality of life in dysferlinopathy can be good despite poor function (2021) (0)
[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies]. (1994) (0)

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