Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
about
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assemblyRapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeCongenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsLRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Regulation of quantal size by presynaptic mechanisms.Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.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 syndromeGFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.End-plate electromyography: use of spectral analysis of end-plate noise.Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
P2860
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P2860
Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@ast
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@en
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@nl
type
label
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@ast
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@en
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@nl
prefLabel
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@ast
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@en
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@nl
P2093
P2860
P356
P1433
P1476
Congenital myasthenic syndrome ...... cetylcholine with its receptor
@en
P2093
P2860
P304
P356
10.1002/MUS.880161205
P407
P577
1993-12-01T00:00:00Z