A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

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The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.

P2860

Q52598604-D77B910A-67FE-4E77-B47E-A9350E70B1DD

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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

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http://www.wikidata.org/entity/Q47103393

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

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@zh-hans

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@yue

2017年學術文章

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name

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@en

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

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type

Item

label

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@en

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@nl

prefLabel

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@en

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@nl

P1476

A novel frameshift mutation of ...... sive cerebellar ataxia type 8.

@en

P2093

Keiko Wakui

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

Kunihiro Yoshida

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

Kyoko Takano

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

Masumi Ishikawa

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

Tomoki Kosho

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

Tomomi Yamaguchi

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

Tsuneaki Yoshinaga

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

Yoshiki Sekijima

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

Yoshimitsu Fukushima

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

P2860

Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Nesprins: from the nuclear envelope and beyond.

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

P2888

hgv.2017.52

P304

17052

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P31

scholarly article

P356

10.1038/HGV.2017.52

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P478

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

P50

Katsuya Nakamura

P577

2017-10-26T00:00:00Z

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

P698

29081981

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P921

autosomal recessive cerebellar ataxia

P932

5656760

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

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

about

P2860

P2860

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P698

P921

P932