A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
about
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaIdentifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.A T-type channel-calmodulin complex triggers αCaMKII activation.Voltage-gated calcium channels - from basic mechanisms to disease.A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Polyglutamine spinocerebellar ataxias - from genes to potential treatments.SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.Ion channel dysfunction in cerebellar ataxia.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.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 Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
description
2015 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im November 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/11/05)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/11/05)
@nl
наукова стаття, опублікована в листопаді 2015
@uk
مقالة علمية (نشرت في 5-11-2015)
@ar
name
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@ast
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@en
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@nl
type
label
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@ast
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@en
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@nl
prefLabel
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@ast
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@en
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@nl
P2093
P2860
P50
P921
P3181
P1476
A Recurrent Mutation in CACNA1 ...... mal-Dominant Cerebellar Ataxia
@en
P2093
Alexandra Durr
Anna Castrioto
Charles Duyckaerts
Emeline Mundwiller
Isabelle Le Ber
Iulia Blesneac
Marie-Lorraine Monin
P2860
P304
P3181
P356
10.1016/J.AJHG.2015.09.007
P407
P50
P5008
P577
2015-11-05T00:00:00Z