From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

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label

From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

@en

From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

@nl

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From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

@en

From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

@nl

P1476

From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

@en

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R Mehanna

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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.

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).

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

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

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.

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

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

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2013-08-01T00:00:00Z

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