Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.
about
Presynaptic Calmodulin targets: lessons from structural proteomics.Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderImproved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.Helix: October 2016 issueThe Structure of Human Neuromuscular Junctions: Some Unanswered Molecular Questions.The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission.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 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.The unfolding landscape of the congenital myasthenic syndromes.Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Loss of MUNC13-1 function caus ...... ability, and fatal myasthenia.
@en
type
label
Loss of MUNC13-1 function caus ...... ability, and fatal myasthenia.
@en
prefLabel
Loss of MUNC13-1 function caus ...... ability, and fatal myasthenia.
@en
P2093
P2860
P1433
P1476
Loss of MUNC13-1 function caus ...... ability, and fatal myasthenia.
@en
P2093
Andrew G Engel
C Michel Harper
Duygu Selcen
Xin-Ming Shen
P2860
P356
10.1212/NXG.0000000000000105
P577
2016-09-08T00:00:00Z