Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

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Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-cn

2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-sg

2018年學術文章

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2018年學術文章

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name

Clinical and genetic features ...... motor neuropathy 2B in Japan.

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Clinical and genetic features ...... motor neuropathy 2B in Japan.

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label

Clinical and genetic features ...... motor neuropathy 2B in Japan.

@en

Clinical and genetic features ...... motor neuropathy 2B in Japan.

@nl

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Clinical and genetic features ...... motor neuropathy 2B in Japan.

@en

Clinical and genetic features ...... motor neuropathy 2B in Japan.

@nl

P1476

Clinical and genetic features ...... y motor neuropathy 2B in Japan

@en

P2093

Akihiro Hashiguchi

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Eiji Matsuura

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Hajime Tanabe

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Hiroshi Kida

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Hiroshi Takashima

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Jiro Fukae

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Jun Mitsui

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Kengo Maeda

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Mitsuya Morita

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Norito Kokubun

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P2860

Three-dimensional structure of α-crystallin domain dimers of human small heat shock proteins HSPB1 and HSPB6

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

Regulation of HSP27 on NF-kappaB pathway activation may be involved in metastatic hepatocellular carcinoma cells apoptosis.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

Small heat shock proteins in inherited peripheral neuropathies.

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40-48

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scholarly article

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10.1111/JNS.12252

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P433

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P478

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Hiroyuki Ishiura

Jun-Hui Yuan

Akiko Yoshimura

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2018-02-14T00:00:00Z

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P698

29381233

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5873406

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