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 - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q34378608

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Parkinsonism in spinocerebellar ataxia Examination of Huntington's disease in a Chinese family The Pathogenic Role of Low Range Repeats in SCA17.Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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P2860

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

http://www.wikidata.org/entity/Q34378608

description

2012 nî lūn-bûn

@nan

2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Severe and rapidly progressing ...... ng protein gene: a case report

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Annemette Løkkegaard

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Jens Kellberg Nielsen

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Jette Stokholm

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Jørgen E Nielsen

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Lars Friberg

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Sara Bech

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Skirmante Mardosiene

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Susanne Ehrenfels

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Troels Tolstrup Nielsen

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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.

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models.

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.

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

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