Published in Hum Mol Genet on April 01, 2003
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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
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
Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology (2012) 1.49
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A benign congenital myopathy in an inbred Samaritan family. Eur J Paediatr Neurol (2006) 1.41
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
Sporadic late onset nemaline myopathy. Neurology (2005) 1.32
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat (2003) 1.20
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 1.16
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun (2005) 1.16
Reconstitution of paired T cell receptor alpha- and beta-chains from microdissected single cells of human inflammatory tissues. Proc Natl Acad Sci U S A (2006) 1.14
Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoforms. J Neurosci (2004) 1.12
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann Neurol (2006) 1.12
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol (2013) 1.11
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Am J Med Genet B Neuropsychiatr Genet (2011) 1.08
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem (2003) 1.08
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol (2005) 1.05
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet (2008) 1.05
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol (2008) 1.05
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest (2008) 1.04
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J (2004) 1.02
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. Muscle Nerve (2011) 0.98
Features associated with epilepsy in the antiphospholipid syndrome. J Rheumatol (2004) 0.96
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet (2009) 0.96
Oligohydrosis and hyperthermia: pilot study of a novel topiramate adverse effect. J Child Neurol (2003) 0.95
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating. J Clin Invest (2012) 0.95
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain (2004) 0.95
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord (2004) 0.94
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology (2003) 0.93
Are post intracerebral hemorrhage seizures prevented by anti-epileptic treatment? Epilepsy Res (2011) 0.93
Evaluation of cutaneous autonomic innervation in idiopathic sensory small-fiber neuropathy. J Peripher Nerv Syst (2007) 0.92
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
Tonic-clonic seizures in patients taking sildenafil. BMJ (2002) 0.91
Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord (2004) 0.90
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene. J Neurol Sci (2010) 0.89
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor. J Physiol (2007) 0.88
The proteomic profile of hereditary inclusion body myopathy. PLoS One (2011) 0.88
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology (2012) 0.88
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. Neurology (2013) 0.87
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology (2011) 0.86
Acute painful neuropathy induced by rapid correction of serum glucose levels in diabetic patients. Biomed Pharmacother (2008) 0.86
Thrombin regulation of synaptic plasticity: implications for physiology and pathology. Exp Neurol (2013) 0.86
Monotherapy of lamotrigine versus carbamazepine in patients with poststroke seizure. Clin Neuropharmacol (2007) 0.86
Functional consequences and structural interpretation of mutations of human choline acetyltransferase. Hum Mutat (2011) 0.85
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep (2002) 0.85
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord (2011) 0.84
Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibers. Am J Pathol (2011) 0.84
Myofibrillar myopathies. Handb Clin Neurol (2011) 0.84
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet (2003) 0.83
Thrombin regulation of synaptic transmission: implications for seizure onset. Neurobiol Dis (2012) 0.83
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology (2014) 0.83
Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates. Isr Med Assoc J (2006) 0.83
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology (2013) 0.83
The EEG in E200K familial CJD: relation to MRI patterns. J Neurol (2011) 0.83
The anticoagulant activated protein C (aPC) promotes metaplasticity in the hippocampus through an EPCR-PAR1-S1P1 receptors dependent mechanism. Hippocampus (2014) 0.82
Early outcome of acute ischemic stroke in hyperlipidemic patients under atorvastatin versus simvastatin. Clin Neuropharmacol (2010) 0.82
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Neuromuscul Disord (2005) 0.82
Effects of ginsenosides, active components of ginseng, on nicotinic acetylcholine receptors expressed in Xenopus oocytes. Eur J Pharmacol (2002) 0.82
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol (2012) 0.82
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. Sci Rep (2013) 0.82
Once-daily USL255 as adjunctive treatment of partial-onset seizures: randomized phase III study. Epilepsia (2014) 0.81
Treating seizures and epilepsy with anticoagulants? Front Cell Neurosci (2013) 0.81
Splicing abnormalities in congenital myasthenic syndromes. Acta Myol (2005) 0.81
PRRT2 mutations: exploring the phenotypical boundaries. J Neurol Neurosurg Psychiatry (2013) 0.80
Prospective evaluation of malignant middle cerebral artery infarction with blood-brain barrier imaging using Tc-99m DTPA SPECT. Brain Res (2006) 0.79
Quality of life in seizure-free patients with epilepsy on monotherapy. Epilepsy Behav (2008) 0.79
Efficacy of acetylcholinesterase inhibitors in frontotemporal dementia. Ann Pharmacother (2004) 0.79
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. Ann Neurol (2002) 0.79
Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol (2005) 0.79
Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy. Eur Neurol (2005) 0.79
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. Neuromuscul Disord (2012) 0.78
I-123 MIBG cardiac scintigraphy and autonomic test evaluation in multiple sclerosis patients. J Neurol (2008) 0.78
Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease. Amyotroph Lateral Scler (2010) 0.78
Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy. Isr Med Assoc J (2012) 0.78
Eosinophilia, myositis, and myasthenia gravis associated with a thymoma. Muscle Nerve (2006) 0.78
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis. Chem Biol Interact (2012) 0.78
Congenital myasthenic syndromes:gene mutations. Neuromuscul Disord (2003) 0.78