Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
about
Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic miceFrequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxiaRelations between genotype and phenotype in German patients with the Machado-Joseph disease mutationDemystified ... microsatellites.The mammalian tachykinin ligand-receptor system: an emerging target for central neurological disordersMarked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation.Spinocerebellar ataxia type 6: genotype and phenotype in German kindredsA case of Machado-Joseph disease presenting with spastic paraparesis.An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.The genetic defect causing Huntington's disease: repeated in other contexts?Clinical aspects of CAG repeat diseases.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.Different origins of mutations at the Machado-Joseph locus (MJD1)The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state.The aetiology of sporadic adult-onset ataxia.Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
P2860
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P2860
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Trinucleotide expansion within ...... quently in German SCA patients
@ast
Trinucleotide expansion within ...... quently in German SCA patients
@en
Trinucleotide expansion within ...... quently in German SCA patients
@en-gb
Trinucleotide expansion within ...... quently in German SCA patients
@nl
type
label
Trinucleotide expansion within ...... quently in German SCA patients
@ast
Trinucleotide expansion within ...... quently in German SCA patients
@en
Trinucleotide expansion within ...... quently in German SCA patients
@en-gb
Trinucleotide expansion within ...... quently in German SCA patients
@nl
prefLabel
Trinucleotide expansion within ...... quently in German SCA patients
@ast
Trinucleotide expansion within ...... quently in German SCA patients
@en
Trinucleotide expansion within ...... quently in German SCA patients
@en-gb
Trinucleotide expansion within ...... quently in German SCA patients
@nl
P2093
P921
P356
P1476
Trinucleotide expansion within ...... quently in German SCA patients
@en
P2093
A M Vieira-Saecker
H Przuntek
J T Epplen
P304
P356
10.1093/HMG/4.6.1001
P407
P577
1995-06-01T00:00:00Z