about
Neurological aspects of human glycosylation disordersPREPL deficiency with or without cystinuria causes a novel myasthenic syndromeA single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapsesCholine Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Acetylcholine ameliorates endoplasmic reticulum stress in endothelial cells after hypoxia/reoxygenation via M3 AChR-AMPK signalingCOLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Chaperone-Mediated Regulation of Choline Acetyltransferase Protein Stability and Activity by HSC/HSP70, HSP90, and p97/VCP.How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
New horizons for congenital myasthenic syndromes
@ast
New horizons for congenital myasthenic syndromes
@en
New horizons for congenital myasthenic syndromes
@nl
type
label
New horizons for congenital myasthenic syndromes
@ast
New horizons for congenital myasthenic syndromes
@en
New horizons for congenital myasthenic syndromes
@nl
prefLabel
New horizons for congenital myasthenic syndromes
@ast
New horizons for congenital myasthenic syndromes
@en
New horizons for congenital myasthenic syndromes
@nl
P2093
P2860
P1476
New horizons for congenital myasthenic syndromes
@en
P2093
Andrew G Engel
Duygu Selcen
Steven Sine
Xin-Ming Shen
P2860
P356
10.1111/J.1749-6632.2012.06803.X
P407
P577
2012-12-01T00:00:00Z