Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

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Examination of Huntington's disease in a Chinese family From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

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http://www.wikidata.org/entity/Q54187083

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2010 nî lūn-bûn

@nan

2010年の論文

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2010年学术文章

@wuu

2010年学术文章

@zh-cn

2010年学术文章

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2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

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2010年學術文章

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2010年學術文章

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name

Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

@en

Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

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type

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Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

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Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

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prefLabel

Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

@en

Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

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P1476

Spinocerebellar ataxia type 17 ...... ases of homozygous expansions.

@en

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K Radhakrishnan

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M Seshadri

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R R Hire

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S M Katrak

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S Vaidya

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P2860

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.

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

TATA-binding protein in neurodegenerative disease.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

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472-477

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scholarly article

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10.1111/J.1399-0004.2010.01589.X

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2010-11-25T00:00:00Z

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21108634

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P921

India

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

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P2860

P2860

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

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P1433

P1476

P2093

P2860

P304

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P356

P433

P478

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921