An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Item
http://www.wikidata.org/entity/Q28270010
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsSpinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surfaceFrequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia casesKCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsMutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesRescue of motor coordination by Purkinje cell-targeted restoration of Kv3.3 channels in Kcnc3-null mice requires Kcnc1.A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
P2860

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Item
http://www.wikidata.org/entity/Q28270010
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@ast
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@en
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@nl
type
label
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@ast
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@en
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@nl
prefLabel
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@ast
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@en
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
An autosomal dominant ataxia m ...... neity of SCA13 or novel locus?
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000177490.05162.41
P407
P433
P478
P577
P698