Defective presynaptic choline transport underlies hereditary motor neuropathy.
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaPREPL deficiency with or without cystinuria causes a novel myasthenic syndromeExome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathySynaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDrosophila melanogaster as a genetic model system to study neurotransmitter transporters.Identification and characterization of ML352: a novel, noncompetitive inhibitor of the presynaptic choline transporter.Synthesis and structure-activity relationships of a series of 4-methoxy-3-(piperidin-4-yl)oxy benzamides as novel inhibitors of the presynaptic choline transporter.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyMutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.Genetic heterogeneity of motor neuropathiesExome sequencing greatly expedites the progressive research of Mendelian diseases.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.An overview of inborn errors of complex lipid biosynthesis and remodelling.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Hemicholinium-3 sensitive choline transport in human T lymphocytes: Evidence for use as a proxy for brain choline transporter (CHT) capacity.Choline transporter hemizygosity results in diminished basal extracellular dopamine levels in nucleus accumbens and blunts dopamine elevations following cocaine or nicotine.Differential impact of genetically modulated choline transporter expression on the release of endogenous versus newly synthesized acetylcholine.Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.The unfolding landscape of the congenital myasthenic syndromes.Defective SLC5A7 does not cotransport Cho; Cl-; Na+ from extracellular region to cytosolTruncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_R-HSA-5619102
P2860
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P2860
Defective presynaptic choline transport underlies hereditary motor neuropathy.
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին 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
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@ast
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@en
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@nl
type
label
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@ast
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@en
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@nl
prefLabel
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@ast
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@en
Defective presynaptic choline transport underlies hereditary motor neuropathy.
@nl
P2093
P2860
P1476
Defective presynaptic choline transport underlies hereditary motor neuropathy
@en
P2093
Ajith Nair
Ali Al-Memar
Alicia M Ruggiero
Andrew H Crosby
Hamid Modarres
Jane Wright
Katherine J Dick
Katy E S Barwick
Mary M Reilly
Matt E Hurles
P2860
P304
P356
10.1016/J.AJHG.2012.09.019
P407
P577
2012-11-08T00:00:00Z