Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

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A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet (2015) 0.81

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48

Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41

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Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain (2010) 1.93

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain (2012) 1.92

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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol (2008) 1.83

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Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80

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Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77

Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol (2004) 1.73

CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol (2006) 1.73

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol (2011) 1.73

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 1.69

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61

The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab (2012) 1.60

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol (2012) 1.57

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain (2007) 1.55

Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52

Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52

Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A (2003) 1.50

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord (2010) 1.50

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Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49

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

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 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

Cellular response to hypoxia involves signaling via Smad proteins. Blood (2002) 1.45

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44

Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41

Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 1.41

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature (2011) 1.41

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine (Baltimore) (2014) 1.39

Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol (2008) 1.39

Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis. J Neurol (2011) 1.39

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39

Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. Biochem J (2004) 1.36

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (2010) 1.34

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet (2010) 1.34

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord (2009) 1.34

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33

Sporadic late onset nemaline myopathy. Neurology (2005) 1.32

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function. Neuromuscul Disord (2002) 1.32

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

Myosinopathies: pathology and mechanisms. Acta Neuropathol (2012) 1.29

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol (2007) 1.29

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol (2003) 1.29

Cerebrospinal fluid HIV-1 infection usually responds well to antiretroviral treatment. Antivir Ther (2005) 1.28

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One (2010) 1.26

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24

Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res (2008) 1.23

Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23

Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol (2009) 1.22

Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22

Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol (2011) 1.21

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med (2010) 1.20

Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet (2012) 1.19

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. Hum Mutat (2009) 1.19

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet (2012) 1.18

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis (2012) 1.17

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med (2007) 1.17

De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol (2008) 1.17

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord (2011) 1.16

The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet (2007) 1.16