Published in Brain on December 22, 2004
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol (2015) 1.44
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly. J Biol Chem (2008) 1.09
Further observations in congenital myasthenic syndromes. Ann N Y Acad Sci (2008) 0.95
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Hum Mutat (2016) 0.77
Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates. J Biol Chem (2015) 0.77
Recent advances in Cys-loop receptor structure and function. Nature (2006) 4.20
Principal pathway coupling agonist binding to channel gating in nicotinic receptors. Nature (2005) 3.47
Coupling of agonist binding to channel gating in an ACh-binding protein linked to an ion channel. Nature (2004) 2.77
Mutations in myotilin cause myofibrillar myopathy. Neurology (2004) 2.41
Detection and trapping of intermediate states priming nicotinic receptor channel opening. Nature (2009) 2.33
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
Human branch point consensus sequence is yUnAy. Nucleic Acids Res (2008) 1.94
Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol (2005) 1.92
Initial coupling of binding to gating mediated by conserved residues in the muscle nicotinic receptor. J Gen Physiol (2005) 1.91
Agonist-mediated conformational changes in acetylcholine-binding protein revealed by simulation and intrinsic tryptophan fluorescence. J Biol Chem (2004) 1.81
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
Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci (2003) 1.70
Targeted molecular dynamics study of C-loop closure and channel gating in nicotinic receptors. PLoS Comput Biol (2006) 1.65
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet (2002) 1.61
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions. Sci Rep (2012) 1.58
Ligand-binding domain of an α7-nicotinic receptor chimera and its complex with agonist. Nat Neurosci (2011) 1.58
Novel modulation of neuronal nicotinic acetylcholine receptors by association with the endogenous prototoxin lynx1. Neuron (2002) 1.56
Are MuSK antibodies the primary cause of myasthenic symptoms? Neurology (2004) 1.54
Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease. Neurosci Lett (2009) 1.54
Control of cation permeation through the nicotinic receptor channel. PLoS Comput Biol (2008) 1.51
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
Number and locations of agonist binding sites required to activate homomeric Cys-loop receptors. J Neurosci (2009) 1.41
The interface between extracellular and transmembrane domains of homomeric Cys-loop receptors governs open-channel lifetime and rate of desensitization. J Neurosci (2008) 1.40
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest (2003) 1.36
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. Sci Rep (2012) 1.35
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
An ion selectivity filter in the extracellular domain of Cys-loop receptors reveals determinants for ion conductance. J Biol Chem (2008) 1.29
What have we learned from the congenital myasthenic syndromes. J Mol Neurosci (2009) 1.29
Nanosecond-timescale conformational dynamics of the human alpha7 nicotinic acetylcholine receptor. Biophys J (2007) 1.28
Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells. Biochem Biophys Res Commun (2009) 1.27
Invariant aspartic Acid in muscle nicotinic receptor contributes selectively to the kinetics of agonist binding. J Gen Physiol (2004) 1.25
Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions. J Neurosci (2009) 1.25
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One (2009) 1.23
Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol (2002) 1.23
Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities. Nucleic Acids Res (2007) 1.22
An intersubunit trigger of channel gating in the muscle nicotinic receptor. J Neurosci (2007) 1.21
Barriers to ion translocation in cationic and anionic receptors from the Cys-loop family. J Am Chem Soc (2007) 1.19
Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve (2003) 1.19
Ligand-induced conformational change in the alpha7 nicotinic receptor ligand binding domain. Biophys J (2005) 1.17
Asymmetric structural motions of the homomeric alpha7 nicotinic receptor ligand binding domain revealed by molecular dynamics simulation. Biophys J (2003) 1.17
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
Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes. Biochemistry (2004) 1.13
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
Molecular-dynamics simulations of ELIC-a prokaryotic homologue of the nicotinic acetylcholine receptor. Biophys J (2009) 1.11
Nicotinic receptor interloop proline anchors beta1-beta2 and Cys loops in coupling agonist binding to channel gating. J Gen Physiol (2008) 1.10
Single-channel kinetic analysis of chimeric alpha7-5HT3A receptors. Mol Pharmacol (2005) 1.09
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
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res (2011) 1.07
Single-channel and structural foundations of neuronal α7 acetylcholine receptor potentiation. J Neurosci (2011) 1.06
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve (2011) 1.05
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
Curariform antagonists bind in different orientations to acetylcholine-binding protein. J Biol Chem (2003) 1.04
Single-channel current through nicotinic receptor produced by closure of binding site C-loop. Biophys J (2009) 1.04
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest (2008) 1.04
Intramembrane proton binding site linked to activation of bacterial pentameric ion channel. J Biol Chem (2011) 1.03
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
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. Ann N Y Acad Sci (2003) 1.02
Curariform antagonists bind in different orientations to the nicotinic receptor ligand binding domain. J Biol Chem (2003) 1.01
Molecular hydrogen inhibits lipopolysaccharide/interferon γ-induced nitric oxide production through modulation of signal transduction in macrophages. Biochem Biophys Res Commun (2011) 1.01
Stoichiometry for activation of neuronal α7 nicotinic receptors. Proc Natl Acad Sci U S A (2013) 1.01
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
Solution NMR of acetylcholine binding protein reveals agonist-mediated conformational change of the C-loop. Mol Pharmacol (2006) 0.99
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. Muscle Nerve (2011) 0.98
The spectrum of congenital myasthenic syndromes. Mol Neurobiol (2002) 0.97
Residues in the epsilon subunit of the nicotinic acetylcholine receptor interact to confer selectivity of waglerin-1 for the alpha-epsilon subunit interface site. Biochemistry (2002) 0.97
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
Subunit-selective contribution to channel gating of the M4 domain of the nicotinic receptor. Biophys J (2002) 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
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics (2007) 0.95