Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation
about
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationPoly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating ModuleReelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes.Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegenerationAutosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.The molecular biology of the autosomal-dominant cerebellar ataxias.Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesBrain pathology of spinocerebellar ataxias.Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic populationSpinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.Centres of Excellence for the care of people with progressive ataxias.A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases.Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state.Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis.Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
P2860
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P2860
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular and clinical study o ...... rogeneity and de novo mutation
@ast
Molecular and clinical study o ...... rogeneity and de novo mutation
@en
Molecular and clinical study o ...... rogeneity and de novo mutation
@nl
type
label
Molecular and clinical study o ...... rogeneity and de novo mutation
@ast
Molecular and clinical study o ...... rogeneity and de novo mutation
@en
Molecular and clinical study o ...... rogeneity and de novo mutation
@nl
prefLabel
Molecular and clinical study o ...... rogeneity and de novo mutation
@ast
Molecular and clinical study o ...... rogeneity and de novo mutation
@en
Molecular and clinical study o ...... rogeneity and de novo mutation
@nl
P2093
P2860
P50
P356
P1476
Molecular and clinical study o ...... rogeneity and de novo mutation
@en
P2093
P2860
P304
P356
10.1086/302406
P407
P577
1999-06-01T00:00:00Z