Published in Neuromuscul Disord on May 08, 2007
Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice. Mol Ther (2009) 1.76
Characterization of pulmonary function in Duchenne Muscular Dystrophy. Pediatr Pulmonol (2015) 1.58
Widening gap in age at muscular dystrophy-associated death between blacks and whites, 1986-2005. Neurology (2010) 1.50
Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. Dev Med Child Neurol (2015) 1.42
Design and pilot validation of A-gear: a novel wearable dynamic arm support. J Neuroeng Rehabil (2015) 1.40
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One (2009) 1.36
Chronic administration of membrane sealant prevents severe cardiac injury and ventricular dilatation in dystrophic dogs. J Clin Invest (2010) 1.34
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol (2012) 1.31
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol (2010) 1.23
Home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline. Can Respir J (2011) 1.17
Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics (2015) 1.06
Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy. Ann Neurol (2014) 1.02
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. Acta Myol (2012) 0.98
Patterns of decline in upper limb function of boys and men with DMD: an international survey. J Neurol (2014) 0.97
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology (2013) 0.97
Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options. Ther Clin Risk Manag (2015) 0.91
Compliance to Care Guidelines for Duchenne Muscular Dystrophy. J Neuromuscul Dis (2016) 0.90
Nestin expression in end-stage disease in dystrophin-deficient heart: implications for regeneration from endogenous cardiac stem cells. Stem Cells Transl Med (2013) 0.89
Survival in Duchenne muscular dystrophy. Acta Myol (2012) 0.89
Early right ventricular fibrosis and reduction in biventricular cardiac reserve in the dystrophin-deficient mdx heart. Am J Physiol Heart Circ Physiol (2014) 0.88
Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials. ILAR J (2014) 0.88
Injection of vessel-derived stem cells prevents dilated cardiomyopathy and promotes angiogenesis and endogenous cardiac stem cell proliferation in mdx/utrn-/- but not aged mdx mouse models for duchenne muscular dystrophy. Stem Cells Transl Med (2012) 0.86
Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts. PLoS One (2012) 0.85
A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis (2008) 0.84
Evaluation of the therapeutic utility of phosphodiesterase 5A inhibition in the mdx mouse model of duchenne muscular dystrophy. Handb Exp Pharmacol (2011) 0.84
Human muscle-derived cell populations isolated by differential adhesion rates: phenotype and contribution to skeletal muscle regeneration in Mdx/SCID mice. Tissue Eng Part A (2011) 0.84
Adult care for Duchenne muscular dystrophy in the UK. J Neurol (2014) 0.83
Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study. BMC Pediatr (2010) 0.83
Clinical utility of serum biomarkers in Duchenne muscular dystrophy. Clin Proteomics (2016) 0.82
The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease. Phys Med Rehabil Clin N Am (2012) 0.82
Membrane-stabilizing copolymers confer marked protection to dystrophic skeletal muscle in vivo. Mol Ther Methods Clin Dev (2015) 0.81
Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management. Disabil Rehabil (2016) 0.81
Vascular-targeted therapies for Duchenne muscular dystrophy. Skelet Muscle (2013) 0.80
A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy. PLoS Curr (2013) 0.78
The effect of posterior spinal fusion on respiratory function in Duchenne muscular dystrophy. Eur Spine J (2012) 0.77
Quantifying the burden of caregiving in Duchenne muscular dystrophy. J Neurol (2016) 0.77
Concise review: mesoangioblast and mesenchymal stem cell therapy for muscular dystrophy: progress, challenges, and future directions. Stem Cells Transl Med (2014) 0.77
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun (2017) 0.77
Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy. PLoS Curr (2015) 0.76
Diastolic dysfunction precedes hypoxia-induced mortality in dystrophic mice. Physiol Rep (2015) 0.76
Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg (2016) 0.75
Hypoxia-induced cardiac injury in dystrophic mice. Am J Physiol Heart Circ Physiol (2016) 0.75
Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis. Pharmacoeconomics (2016) 0.75
Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy. Int Sch Res Notices (2014) 0.75
Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture. Nutrients (2016) 0.75
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. J Neuromuscul Dis (2016) 0.75
Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries. J Neurol (2017) 0.75
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
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
Proinflammatory cytokine expression profile in degenerated and herniated human intervertebral disc tissues. Arthritis Rheum (2010) 3.45
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
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
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Recurrence of kyphosis and its functional implications after surgical stabilization of dorsolumbar unstable burst fractures. Spine J (2009) 1.76
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res (2009) 1.67
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Prophylactic antibiotics for the prevention of cellulitis (erysipelas) of the leg: results of the UK Dermatology Clinical Trials Network's PATCH II trial. Br J Dermatol (2011) 1.63
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
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
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
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. Am J Hum Genet (2002) 1.46
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44
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
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem (2007) 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
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. Ann Neurol (2002) 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
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24
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
Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat (2003) 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
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet (2003) 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
Interventions for muscular dystrophy: molecular medicines entering the clinic. Lancet (2009) 1.10
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
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun (2002) 1.03
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord (2012) 1.02