Published in Lancet Neurol on January 01, 2010
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem (2007) 1.37
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J (2007) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2011) 1.32
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat (2003) 1.20
Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol (2004) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail (2009) 1.19
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol (2004) 1.17
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord (2002) 1.15
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet (2005) 1.15
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet (2005) 1.14
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging (2009) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis (2013) 1.09
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. Neuromuscul Disord (2004) 1.09
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord (2008) 1.08
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain (2008) 1.07
The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol (2006) 1.05
Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve (2013) 1.05
Molecular treatments in Duchenne muscular dystrophy. Curr Opin Pharmacol (2010) 1.04
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord (2012) 1.02
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. Hum Mutat (2005) 1.01
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. Arch Neurol (2004) 1.01
Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol (2008) 1.01
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord (2004) 0.99
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease. Clin Rehabil (2013) 0.99
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord (2008) 0.98
Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am (2012) 0.98
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet (2008) 0.97
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. Ann Neurol (2002) 0.96
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol (2013) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
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. Hum Mutat (2013) 0.95
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord (2013) 0.93
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord (2002) 0.92
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr (2013) 0.92
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul Disord (2010) 0.91
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet (2013) 0.91
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol (2013) 0.91
Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle. Am J Pathol (2010) 0.91
Reverse engineering gene network identifies new dysferlin-interacting proteins. J Biol Chem (2010) 0.90
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord (2013) 0.89
Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord (2008) 0.88
Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. Neuromuscul Disord (2009) 0.88
Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord (2012) 0.88
Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy. Eur J Heart Fail (2010) 0.86
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency. Hum Mol Genet (2011) 0.86
Muscular dystrophy in dysferlin-deficient mouse models. Neuromuscul Disord (2013) 0.86
Continued need for caution in the diagnosis of Duchenne muscular dystrophy. Neurology (2005) 0.86
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. Hum Mol Genet (2010) 0.86
Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations. Adv Exp Med Biol (2009) 0.86
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. Hum Mol Genet (2010) 0.85
Endocrine aspects of Duchenne muscular dystrophy. Neuromuscul Disord (2011) 0.85
Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol (2006) 0.84
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. Neuromuscul Disord (2005) 0.83
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2013) 0.83
Presymptomatic late-onset Pompe disease identified by the dried blood spot test. Neuromuscul Disord (2012) 0.82
Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul Disord (2006) 0.82
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet (2011) 0.82
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord (2010) 0.80
How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India (2008) 0.80
Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism. Neuromuscul Disord (2009) 0.80
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands. Neuromuscul Disord (2004) 0.80
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn (2004) 0.80
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Eur J Hum Genet (2009) 0.80
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. Eur J Heart Fail (2013) 0.79
One gene, one or many diseases? Simplifying dysferlinopathy. Neurology (2010) 0.78
172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands. Neuromuscul Disord (2011) 0.78
Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies. Neurotherapeutics (2008) 0.77
Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies. J Neuromuscul Dis (2015) 0.75