A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
about
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsNovel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanismsAcetylcholine receptors and myasthenia.Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models.What have we learned from the congenital myasthenic syndromesPhenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndromeNovel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociationSkeletal muscle calpain acts through nitric oxide and neural miRNAs to regulate acetylcholine release in motor nerve terminals.The auto-antigen repertoire in myasthenia gravis.Nicotinic acetylcholine receptors in human genetic disease.Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome.AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome.Charged residues in the beta2 subunit involved in GABAA receptor activation.Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.
P2860
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P2860
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@ast
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en-gb
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@nl
type
label
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@ast
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en-gb
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@nl
prefLabel
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@ast
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en-gb
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@nl
P2093
P921
P356
P1433
P1476
A beta-subunit mutation in the ...... s severe slow-channel syndrome
@en
P2093
D R Cornblath
S Tamamizu
P2860
P304
P356
10.1002/ANA.410390607
P407
P577
1996-06-01T00:00:00Z