Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
about
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansAssociation analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility.'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIIINuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicitySpinocerebellar ataxia type 6 mutation alters P-type calcium channel functionCloning of human Ca2+ homoeostasis endoplasmic reticulum protein (CHERP): regulated expression of antisense cDNA depletes CHERP, inhibits intracellular Ca2+ mobilization and decreases cell proliferationComparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaCloning of the SCA7 gene reveals a highly unstable CAG repeat expansionAn autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domSomatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationRecurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmissionCerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiencySynaptic targeting of N-type calcium channels in hippocampal neuronsThe cerebellum and migraineGenetics of migraine and pharmacogenomics: some considerationsThe localization and interactions of huntingtinProgressive ataxia due to a missense mutation in a calcium-channel geneJapanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of diseaseGenetic neurological channelopathies: molecular genetics and clinical phenotypes.'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCCMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsCell biology of spinocerebellar ataxiaHomeostatic plasticity at the Drosophila neuromuscular junctionMouse models of polyglutamine diseases: review and data table. Part IThe unstable repeats--three evolving faces of neurological diseaseCurrent understanding of the role of microRNAs in spinocerebellar ataxiasAblation of Ca(V)2.1 voltage-gated Ca²⁺ channels in mouse forebrain generates multiple cognitive impairmentsModal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunitsA mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaA Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ InfluxIsolation and characterization of novel CAG repeat containing genes expressed in human brainThree new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics
P2860
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P2860
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@ast
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@en
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@nl
type
label
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@ast
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@en
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@nl
prefLabel
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@ast
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@en
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@nl
P2093
P3181
P356
P1433
P1476
Autosomal dominant cerebellar ...... tage-dependent calcium channel
@en
P2093
Ashizawa T
Stockton DW
Subramony SH
Zhuchenko O
P2888
P3181
P356
10.1038/NG0197-62
P407
P577
1997-01-01T00:00:00Z