about
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentCurrent status of the congenital myasthenic syndromes.Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Functional consequences and structural interpretation of mutations of human choline acetyltransferase.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.
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Congenital myasthenic syndrome with episodic apnea
@en
Congenital myasthenic syndrome with episodic apnea.
@nl
type
label
Congenital myasthenic syndrome with episodic apnea
@en
Congenital myasthenic syndrome with episodic apnea.
@nl
prefLabel
Congenital myasthenic syndrome with episodic apnea
@en
Congenital myasthenic syndrome with episodic apnea.
@nl
P2093
P2860
P1433
P1476
Congenital myasthenic syndrome with episodic apnea
@en
P2093
Elicia Estrella
James G Shaw
Leah A Mallory
Louis M Kunkel
Michael S Agus
Peter B Kang
Samuel Nurko
Stephanie L Burgess
Tyler M Burpee
P2860
P356
10.1016/J.PEDIATRNEUROL.2009.02.017
P577
2009-07-01T00:00:00Z