Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
about
Genetic heterogeneity of motor neuropathiesVesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.A synaptotagmin suppressor screen indicates SNARE binding controls the timing and Ca2+ cooperativity of vesicle fusion.Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.SYT1-associated neurodevelopmental disorder: a case series
P2860
Q37730501-BECD9E42-00D3-44FD-A5AE-1F839BBA90FDQ39201011-F17C700C-F291-4316-8FB9-3172DFB3C361Q41671800-8844AD44-0940-424F-8A8B-0B1DEA677616Q41836213-C8828326-DEB1-43CD-8821-E2262B55BD6CQ45826766-89BA263B-89B1-4FEF-8CB8-A2C0B6F17714Q47618500-3C2F2951-A68F-4F7D-B4AD-AA50A02DF755Q55417954-2EF0F90D-0AE5-47AC-925C-6A1A1BB2B7BCQ55661123-A8B76ABB-1A09-40D9-9A69-1B176C1B6DA5Q58194861-2FEF99FF-828C-4E37-93D9-7880DB0EAE11
P2860
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@ast
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@en
type
label
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@ast
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@en
prefLabel
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@ast
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@en
P2093
P2860
P50
P1433
P1476
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
@en
P2093
Bashar Awwad Shiekh Hasan
Boglarka Bansagi
David N Herrmann
Eric L Logigian
J Troy Littleton
Janet E Sowden
Jorge L Almodovar
Robert Muni Lofra
Roger G Whittaker
P2860
P304
P356
10.1212/WNL.0000000000002185
P407
P577
2015-10-30T00:00:00Z