A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
about
GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics.hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias.A T-type channel-calmodulin complex triggers αCaMKII activation.PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.Self-Organized Cerebellar Tissue from Human Pluripotent Stem Cells and Disease Modeling with Patient-Derived iPSCs.SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.Ion channel dysfunction in cerebellar ataxia.Targeting potassium channels to treat cerebellar ataxia.Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels.Expanding the global prevalence of spinocerebellar ataxia type 42.A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review
P2860
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P2860
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
description
2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im Dezember 2015 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2015/12/29)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/12/29)
@nl
наукова стаття, опублікована в грудні 2015
@uk
مقالة علمية (نشرت في 29-12-2015)
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name
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@ast
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@en
A mutation in the low voltage- ...... causing spinocerebellar ataxia
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type
label
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@ast
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@en
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@nl
prefLabel
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@ast
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@en
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@nl
P2093
P2860
P50
P921
P1433
P1476
A mutation in the low voltage- ...... causing spinocerebellar ataxia
@en
P2093
Masahiko Watanabe
Reiko Otobe
Ryosuke Miyamoto
Ryosuke Ohsawa
Toshiyuki Ohtake
Yukiko Matsuda
P2860
P2888
P356
10.1186/S13041-015-0180-4
P577
2015-12-29T00:00:00Z
P5875
P6179
1005714371