Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Item
http://www.wikidata.org/entity/Q34172973
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentLethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout miceCholine acetyltransferase structure reveals distribution of mutations that cause motor disorders.What have we learned from the congenital myasthenic syndromesCurrent status of the congenital myasthenic syndromes.Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Function of neuromuscular synapses in the zebrafish choline-acetyltransferase mutant bajan.Clinical aspects of myasthenia explained.Functional consequences and structural interpretation of mutations of human choline acetyltransferase.Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.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.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Item
http://www.wikidata.org/entity/Q34172973
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@ast
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@en
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@nl
type
label
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@ast
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@en
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@nl
prefLabel
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@ast
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@en
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Choline acetyltransferase muta ...... ent acetylcholine resynthesis.
@en
P2093
P304
P31
P356
P433
P478
P577
P698