Published in Muscle Nerve on September 23, 2011
Current status of the congenital myasthenic syndromes. Neuromuscul Disord (2011) 1.60
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol (2015) 1.44
Effects of the ß2-adrenoceptor agonist, albuterol, in a mouse model of anti-MuSK myasthenia gravis. PLoS One (2014) 0.96
Current Treatment, Emerging Translational Therapies, and New Therapeutic Targets for Autoimmune Myasthenia Gravis. Neurotherapeutics (2016) 0.87
Fatigue and muscle atrophy in a mouse model of myasthenia gravis is paralleled by loss of sarcolemmal nNOS. PLoS One (2012) 0.84
Congenital myasthenic syndromes in 2012. Curr Neurol Neurosci Rep (2012) 0.83
Inherited disorders of the neuromuscular junction: an update. J Neurol (2014) 0.83
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. Sci Rep (2015) 0.82
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol (2012) 0.82
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. Neuromuscul Disord (2013) 0.81
Alterations of cAMP-dependent signaling in dystrophic skeletal muscle. Front Physiol (2013) 0.79
Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling. Sci Rep (2015) 0.78
Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease. Proc Natl Acad Sci U S A (2016) 0.78
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscul Disord (2016) 0.77
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscul Disord (2014) 0.76
Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature. Ann Indian Acad Neurol (2013) 0.75
Muscle cramp and oral salbutamol. Br Med J (1978) 2.02
MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet (2004) 1.83
Role of beta-adrenoceptor signaling in skeletal muscle: implications for muscle wasting and disease. Physiol Rev (2008) 1.63
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet (2009) 1.49
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol (1977) 1.36
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
The therapy of congenital myasthenic syndromes. Neurotherapeutics (2007) 1.29
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Myasthenia gravis activities of daily living profile. Neurology (1999) 1.28
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology (2005) 1.18
Congenital endplate acetylcholinesterase deficiency. Brain (1993) 1.16
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology (2009) 1.11
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. Neurology (2010) 1.08
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet (2009) 1.08
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol (2008) 1.05
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol (1999) 1.04
Myosin Va cooperates with PKA RIalpha to mediate maintenance of the endplate in vivo. Proc Natl Acad Sci U S A (2010) 1.03
Myasthenic syndrome caused by plectinopathy. Neurology (2011) 1.00
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord (2010) 0.99
Ephedrine: effects on neuromuscular transmission. Brain Res (1993) 0.98
Acetylcholine at motor nerves: storage, release, and presynaptic modulation by autoreceptors and adrenoceptors. Int Rev Neurobiol (1992) 0.97
Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol. Brain Res (1996) 0.94
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord (2009) 0.90
Protein kinase A regulates the degradation rate of Rs acetylcholine receptors. J Cell Physiol (1995) 0.87
Synaptic activity-related classical protein kinase C isoform localization in the adult rat neuromuscular synapse. J Comp Neurol (2010) 0.85
Reversible selective beta(2)-adrenoceptor agonist-induced myopathy. Rheumatology (Oxford) (2002) 0.79
Elevation of creatine kinase from skeletal muscle associated with inhaled albuterol. Ann Allergy Asthma Immunol (1996) 0.79
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology (2007) 2.14
Electromyographic findings in 37 patients with adult-onset acid maltase deficiency. Muscle Nerve (2015) 2.07
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol (2005) 1.80
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain (2004) 1.80
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol (2003) 1.77
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
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. Neuromuscul Disord (2011) 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
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures. Paediatr Anaesth (2013) 1.16
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. J Physiol (2006) 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
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
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
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet (2003) 0.99
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. Muscle Nerve (2011) 0.98
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
Further observations in congenital myasthenic syndromes. Ann N Y Acad Sci (2008) 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
BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst (2012) 0.91
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
Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord (2004) 0.90
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
Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy. Neurology (2013) 0.87
New horizons for congenital myasthenic syndromes. Ann N Y Acad Sci (2012) 0.87
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann Neurol (2011) 0.87
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology (2011) 0.86
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep (2002) 0.85
Functional consequences and structural interpretation of mutations of human choline acetyltransferase. Hum Mutat (2011) 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
PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology (2014) 0.83
GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology (2013) 0.83
Effects of ginsenosides, active components of ginseng, on nicotinic acetylcholine receptors expressed in Xenopus oocytes. Eur J Pharmacol (2002) 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
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet (2013) 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
Splicing abnormalities in congenital myasthenic syndromes. Acta Myol (2005) 0.81
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. Neuromuscul Disord (2009) 0.79
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. Ann Neurol (2002) 0.79
Congenital myasthenic syndromes:gene mutations. Neuromuscul Disord (2003) 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
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. Neuromuscul Disord (2012) 0.78
Inclusion-body myositis presenting with facial diplegia. Muscle Nerve (2013) 0.76
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. J Clin Neuromuscul Dis (2017) 0.75
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. J Med Assoc Thai (2009) 0.75
Titinopathies: what happens when a big gene mutates in a big family? Neurology (2005) 0.75
Recent structural and mechanistic insights into endplate acetylcholine receptors. Ann N Y Acad Sci (2008) 0.75
Poster 465 Bilateral Hand Weakness and Atrophy in a Teenager: A Case Report. PM R (2016) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75
A 46-year-old woman with severe weakness following acute respiratory distress syndrome. Neurology (2007) 0.75
Preface. Neuromuscular junction disorders. Handb Clin Neurol (2008) 0.75
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. J Neurol (2015) 0.75
Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literature. J Clin Neuromuscul Dis (2012) 0.75
Congenital myasthenic syndromes. Eur J Paediatr Neurol (2003) 0.75
Translating research into treatments. Neurology (2008) 0.75
Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci (2003) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75
A 49-year-old woman with progressive shortness of breath. Neurology (2011) 0.75
Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency. Hum Genet (2005) 0.75