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Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

http://www.wikidata.org/entity/Q37345604

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Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

http://www.wikidata.org/entity/Q37345604

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article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on October 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@en

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@nl

type

label

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@en

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@nl

prefLabel

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@en

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@nl

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0972-2327.120457

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Annals of Indian Academy of Neurology

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Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.

@en

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Jin Zhang

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Weihong Gu

http://www.w3.org/2001/XMLSchema#string

Ying Hao

http://www.w3.org/2001/XMLSchema#string

Yuanyuan Chen

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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.

CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

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

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report

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

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

SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.

Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.

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703-704

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scholarly article

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10.4103/0972-2327.120457

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4

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16

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2013-10-01T00:00:00Z

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24339615

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