Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
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Single nucleotide polymorphism of the human high affinity choline transporter alters transport rateRapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeNew horizons for congenital myasthenic syndromesAcetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenitaCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentImpaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaNuclear choline acetyltransferase activates transcription of a high-affinity choline transporterRecent advances in Cys-loop receptor structure and functionLethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout micePREPL deficiency with or without cystinuria causes a novel myasthenic syndromeDetermination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cellsConvergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.An ocular motility conundrum.High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarraysDPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapsesAlteration in cellular acetylcholine influences dauer formation in Caenorhabditis elegansCongenital myasthenic syndromes in 2012.Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.What have we learned from the congenital myasthenic syndromesMyasthenic syndrome caused by mutation of the SCN4A sodium channelNeck muscle afferents influence oromotor and cardiorespiratory brainstem neural circuits.Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.Current status of the congenital myasthenic syndromes.Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingAssociation of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.A model for dynamic regulation of choline acetyltransferase by phosphorylation.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.The therapy of congenital myasthenic syndromes.Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsComparative study of korean white, red, and black ginseng extract on cholinesterase inhibitory activity and cholinergic functionFunction of neuromuscular synapses in the zebrafish choline-acetyltransferase mutant bajan.The effect of prenatal nicotine on mRNA of central cholinergic markers and hematological parameters in rat fetuses.Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.The epithelial cholinergic system of the airways.Further observations in congenital myasthenic syndromesMyasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patientsCongenital myasthenic syndrome with episodic apnea
P2860
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P2860
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Choline acetyltransferase muta ...... with episodic apnea in humans
@ast
Choline acetyltransferase muta ...... with episodic apnea in humans
@en
Choline acetyltransferase muta ...... with episodic apnea in humans
@nl
type
label
Choline acetyltransferase muta ...... with episodic apnea in humans
@ast
Choline acetyltransferase muta ...... with episodic apnea in humans
@en
Choline acetyltransferase muta ...... with episodic apnea in humans
@nl
prefLabel
Choline acetyltransferase muta ...... with episodic apnea in humans
@ast
Choline acetyltransferase muta ...... with episodic apnea in humans
@en
Choline acetyltransferase muta ...... with episodic apnea in humans
@nl
P2093
P2860
P3181
P356
P1476
Choline acetyltransferase muta ...... with episodic apnea in humans
@en
P2093
C M Harper
J M Brengman
P2860
P304
P3181
P356
10.1073/PNAS.98.4.2017
P407
P577
2001-02-01T00:00:00Z