Published in Hum Mol Genet on October 20, 2004
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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet (2010) 1.10
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet (2009) 1.08
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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One (2013) 0.99
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The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates. Am J Pathol (2009) 0.93
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LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet (2013) 0.91
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The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses. Proc Natl Acad Sci U S A (2014) 0.83
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Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation. Biochim Biophys Acta (2013) 0.82
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A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses. J Neurosci (2014) 0.77
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Two cases of congenital myasthenic syndrome with vocal cord paralysis. Neurology (2015) 0.75
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Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. J Neurol (2013) 0.75
Pregnancy in congenital myasthenic syndrome. J Neurol (2012) 0.75
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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain (2011) 3.04
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. J Cell Biol (2009) 2.30
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol (2009) 2.25
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
Withdrawing amantadine in dyskinetic patients with Parkinson disease: the AMANDYSK trial. Neurology (2013) 2.06
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med (2007) 2.02
Histone deacetylase 9 couples neuronal activity to muscle chromatin acetylation and gene expression. Nat Neurosci (2005) 1.92
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain (2003) 1.90
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain (2006) 1.88
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol (2008) 1.83
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol (2007) 1.76
Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol (2004) 1.73
Postural deformities in Parkinson's disease. Lancet Neurol (2011) 1.73
Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties. J Mol Cell Cardiol (2004) 1.72
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 1.69
Long-term observational study of sporadic inclusion body myositis. Brain (2011) 1.69
Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial. Lancet Neurol (2012) 1.61
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA (2012) 1.58
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis (2014) 1.58
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. Eur Heart J (2010) 1.53
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol (2012) 1.53
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up. Rev Port Cardiol (2003) 1.50
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet (2009) 1.49
Voxel-based analysis of whole-brain effects of age and gender on dopamine transporter SPECT imaging in healthy subjects. Eur J Nucl Med Mol Imaging (2012) 1.49
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol (2003) 1.48
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol (2007) 1.47
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature (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
Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons. PLoS One (2009) 1.45
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. Neurology (2013) 1.45
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
CLP1 links tRNA metabolism to progressive motor-neuron loss. Nature (2013) 1.41
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine (Baltimore) (2014) 1.39
Conditional gene knock-down by CRE-dependent short interfering RNAs. EMBO Rep (2004) 1.37
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. J Cell Biol (2009) 1.36
Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy. Arthritis Rheum (2011) 1.36
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function. Neuromuscul Disord (2002) 1.32
ColVI myopathies: where do we stand, where do we go? Skelet Muscle (2011) 1.31
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
DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. EMBO J (2009) 1.30
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol (2007) 1.29
Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis. Ann Neurol (2006) 1.28
Rescuing Z+ agrin splicing in Nova null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing. Proc Natl Acad Sci U S A (2009) 1.27
Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol (2006) 1.25
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat (2007) 1.24
Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol (2004) 1.20
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain (2009) 1.18
De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol (2008) 1.17
Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia. Proc Natl Acad Sci U S A (2004) 1.16
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat (2005) 1.15
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet (2013) 1.15
Treatment of myasthenia gravis exacerbation with intravenous immunoglobulin: a randomized double-blind clinical trial. Arch Neurol (2005) 1.14
Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol (2011) 1.14
Essential role of B-Raf in oligodendrocyte maturation and myelination during postnatal central nervous system development. J Cell Biol (2008) 1.14
Prospective observational study of low thresholds for platelet transfusion in adult dengue patients. Transfusion (2009) 1.13
MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. J Cell Biol (2004) 1.13
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord (2009) 1.12
Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat (2009) 1.11