Published in Hum Mol Genet on February 10, 2010
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain (2016) 0.81
The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos. Differentiation (2015) 0.80
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. Hum Mol Genet (2016) 0.77
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Hum Mol Genet (2016) 0.75
Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness. J Neuromuscul Dis (2015) 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
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
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
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet (2007) 2.48
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nat Cell Biol (2007) 2.04
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet (2009) 1.95
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science (2006) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
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
Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology. Neurology (2007) 1.78
5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol (2007) 1.77
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
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
Pathological consequences of VCP mutations on human striated muscle. Brain (2006) 1.68
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
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
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
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
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
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
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 1.46
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
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
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
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
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
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet (2011) 1.32
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
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28
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
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol (2005) 1.25
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
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22