Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.

PubWeight™: 0.79‹?›

🔗 View Article (PMID 11835379)

Published in Ann Neurol on February 01, 2002


Duygu Selcen1, Bruce R Krueger, Andrew G Engel

Author Affiliations

1: Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA.

Articles by these authors

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Brain (2010) 4.77

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

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

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

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 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

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

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

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

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

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord (2011) 0.84

Myofibrillar myopathies. Handb Clin Neurol (2011) 0.84

Anomalous vertebral artery compression of the spinal cord at the cervicomedullary junction. Surg Neurol Int (2011) 0.83

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet (2003) 0.83

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology (2013) 0.83

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology (2014) 0.83

Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol (2012) 0.82

Effects of ginsenosides, active components of ginseng, on nicotinic acetylcholine receptors expressed in Xenopus oocytes. Eur J Pharmacol (2002) 0.82

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. Sci Rep (2013) 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

Splicing abnormalities in congenital myasthenic syndromes. Acta Myol (2005) 0.81

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

Hemimasticatory spasm with lateral jaw deviations. Mov Disord (2008) 0.78

Congenital myasthenic syndromes:gene mutations. Neuromuscul Disord (2003) 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

Recent structural and mechanistic insights into endplate acetylcholine receptors. Ann N Y Acad Sci (2008) 0.75

Congenital myasthenic syndromes. Eur J Paediatr Neurol (2003) 0.75

Preface. Neuromuscular junction disorders. Handb Clin Neurol (2008) 0.75

Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci (2003) 0.75

Translating research into treatments. Neurology (2008) 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

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

Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literature. J Clin Neuromuscul Dis (2012) 0.75