Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
about
Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicitySevere dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.Past, present and future therapeutics for cerebellar ataxias.Genetics of dementia.The Pathogenic Role of Low Range Repeats in SCA17.The Repeat Expansion Diseases: The dark side of DNA repair.Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.Repeat expansion diseases: when a good RNA turns bad.Polyglutamine (PolyQ) diseases: genetics to treatments.Genetically modified rodent models of SCA17.Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?Genetics of Frontotemporal Dementia.Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis.A Systematic Review of the Huntington Disease-Like 2 Phenotype.The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.Psychosis in Spinocerebellar Ataxias: a Case Series and Study of Tyrosine Hydroxylase in Substantia Nigra.From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.Age-related length variability of polymorphic CAG repeats.Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
P2860
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P2860
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@ast
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@en
Spinocerebellar ataxia 17
@nl
type
label
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@ast
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@en
Spinocerebellar ataxia 17
@nl
prefLabel
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@ast
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@en
Spinocerebellar ataxia 17
@nl
P2860
P1433
P1476
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
@en
P2860
P2888
P304
P356
10.1007/S12311-008-0016-1
P577
2008-01-01T00:00:00Z
P5875
P6179
1038131449