Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
about
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.Current understanding of the role of microRNAs in spinocerebellar ataxiasInvestigation of the Josephin Domain protein-protein interaction by molecular dynamicsJosephin Domain Structural Conformations Explored by Metadynamics in Essential Coordinates.Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.Ataxin-3 promotes genome integrity by stabilizing Chk1.Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype studyRNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph diseasePopulation based study of late onset cerebellar ataxia in south east Wales.The Toxic Effects of Pathogenic Ataxin-3 Variants in a Yeast Cellular ModelHereditary Cerebellar Ataxias: A Korean Perspective.A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.Alleviating neurodegeneration in Drosophila models of PolyQ diseases.Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation.Machado-Joseph disease/spinocerebellar ataxia type 3.Thermodynamic and kinetic stability of the Josephin Domain closed arrangement: evidences from replica exchange molecular dynamicsAtaxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.The genetic defect causing Huntington's disease: repeated in other contexts?Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort.The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population.The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington's disease patients
P2860
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P2860
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
description
1995 nî lūn-bûn
@nan
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
1995年论文
@zh
1995年论文
@zh-cn
name
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@ast
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@en
type
label
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@ast
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@en
prefLabel
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@ast
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@en
P2093
P2860
P1476
Spinocerebellar ataxia type 1 ...... recessive, or sporadic ataxia.
@en
P2093
J K Lundgren
M J Ahrens
P2860
P304
P407
P577
1995-09-01T00:00:00Z