Spinocerebellar ataxia 15: A phenotypic review and expansion.

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Spinocerebellar ataxia 15: A phenotypic review and expansion.

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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Spinocerebellar ataxia 15: A phenotypic review and expansion.

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Spinocerebellar ataxia 15: A phenotypic review and expansion.

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Spinocerebellar ataxia 15: A phenotypic review and expansion.

@en

Spinocerebellar ataxia 15: A phenotypic review and expansion.

@nl

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Spinocerebellar ataxia 15: A phenotypic review and expansion.

@en

Spinocerebellar ataxia 15: A phenotypic review and expansion.

@nl

P1476

Spinocerebellar ataxia 15: A phenotypic review and expansion.

@en

P2093

Audrey Strongosky

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Kimberly Guthrie

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Philip W Tipton

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Ronald Reimer

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P2860

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Autosomal dominant cerebellar ataxias: a systematic review of clinical features.

The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

P304

86-91

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P31

scholarly article

P356

10.1016/J.PJNNS.2016.10.006

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P433

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P478

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P50

Zbigniew K Wszolek

P577

2016-11-10T00:00:00Z

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P698

27908616

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P932

5378493

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