Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
about
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice.Parkinsonism in spinocerebellar ataxiaPolyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicityCAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.Past, present and future therapeutics for cerebellar ataxias.Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor.The Pathogenic Role of Low Range Repeats in SCA17.Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease.Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.Movement disorders in spinocerebellar ataxias.Non-Ataxic Presenting Symptoms of Dominant Ataxias.Genetically modified rodent models of SCA17.Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.Huntington disease and Huntington disease-like in a case series from Brazil.Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA Polymerase II transcription.Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.
P2860
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P2860
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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name
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@en
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@nl
type
label
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@en
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@nl
prefLabel
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@en
Trinucleotide repeat expansion ...... gton's disease-like phenotype.
@nl
P2093
P356
P1476
Trinucleotide repeat expansion ...... ngton's disease-like phenotype
@en
P2093
D J Morris-Rosendahl
E Holinski-Feder
H Weirich-Schwaiger
M Scheible
P304
P356
10.1136/JMG.2003.015602
P407
P577
2004-03-01T00:00:00Z