Trinucleotide repeat length instability and age of onset in Huntington's disease.
about
Factors affecting levels of genetic diversity in natural populationsHuntington's disease geneticsHuntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthaseThe high spontaneous mutation rate: is it a health risk?DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instabilityMolecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNSMolecular pathology of dentatorubral-pallidoluysian atrophyJapanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington diseaseIntegrative annotation of 21,037 human genes validated by full-length cDNA clonesEpigenetics and Triplet-Repeat Neurological DiseasesIron dysregulation in Huntington's diseaseTransgenic animal models for study of the pathogenesis of Huntington's disease and therapyMutant huntingtin gene-dose impacts on aggregate deposition, DARPP32 expression and neuroinflammation in HdhQ150 miceSuppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s DiseaseNovel polyglutamine model uncouples proteotoxicity from agingContinuous and periodic expansion of CAG repeats in Huntington's disease R6/1 miceThe struggle by Caenorhabditis elegans to maintain proteostasis during aging and diseaseHuntingtin-associated protein 1 interacts with hepatocyte growth factor-regulated tyrosine kinase substrate and functions in endosomal traffickingCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12pMolecular basis of genetic instability of triplet repeatsRole of oxidative DNA damage in mitochondrial dysfunction and Huntington's disease pathogenesisA Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in miceCharacterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.Onset and progression of behavioral and molecular phenotypes in a novel congenic R6/2 line exhibiting intergenerational CAG repeat stability.Molecular Imaging Markers to Track Huntington’s Disease PathologyThe threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegansDisruption of response inhibition circuits in prodromal Huntington disease.Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetTAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington’s disease pathogenesis.Family and molecular data for a fine analysis of age at onset in Huntington disease.Huntington disease expansion mutations in humans can occur before meiosis is completed.
P2860
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P2860
Trinucleotide repeat length instability and age of onset in Huntington's disease.
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@ast
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@en
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@nl
type
label
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@ast
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@en
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@nl
prefLabel
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@ast
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@en
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@nl
P2093
P2860
P356
P1433
P1476
Trinucleotide repeat length instability and age of onset in Huntington's disease.
@en
P2093
Folstein S
Frontali M
Persichetti F
P2860
P2888
P304
P356
10.1038/NG0893-387
P407
P577
1993-08-01T00:00:00Z
P6179
1048577444