about
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzymeMuscle channelopathies and critical points in functional and genetic studies.Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentCongenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsThe spectrum of intermediate syndrome following acute organophosphate poisoning: a prospective cohort study from Sri LankaWhy so many forms of acetylcholinesterase?Pathophysiology of weakness in a patient with congenital end-plate acetylcholinesterase deficiency.Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunitsBeneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Identification of neuromuscular junctions by correlative confocal and transmission electron microscopy.Current status of the congenital myasthenic syndromes.The therapy of congenital myasthenic syndromes.Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeMuscle magnetic resonance imaging in congenital myasthenic syndromes.Clinical Significance of Repetitive Compound Muscle Action Potentials in Patients with Myasthenia Gravis: A Predictor for Cholinergic Side Effects of Acetylcholinesterase Inhibitors.HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.Congenital myasthenic syndrome with sleep hypoventilation.Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Congenital endplate acetylcholinesterase deficiency.
@en
Congenital endplate acetylcholinesterase deficiency.
@nl
type
label
Congenital endplate acetylcholinesterase deficiency.
@en
Congenital endplate acetylcholinesterase deficiency.
@nl
prefLabel
Congenital endplate acetylcholinesterase deficiency.
@en
Congenital endplate acetylcholinesterase deficiency.
@nl
P2093
P356
P1433
P1476
Congenital endplate acetylcholinesterase deficiency.
@en
P2093
Groover RV
Hutchinson DO
Jamieson DG
Peterson HA
P304
P356
10.1093/BRAIN/116.3.633
P407
P478
116 ( Pt 3)
P577
1993-06-01T00:00:00Z