A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment-Reference-Cited by-同舟云学术

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A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment

Published:2019-02 Issue: Volume:397 Page:114-116
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Tsuchiya Mai,Koh Kishin,Ishida Aki,Ichinose Yuta,Shindo Kazumasa,Takiyama Yoshihisa

Funder

Ministry of Health, Labor and Welfare, Japan

Ministry of Education, Culture, Sports, Science, and Technology, Japan

AMED

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference9 articles.

1. Hereditary spastic paraplegia: clinical principles and genetic advances;Fink;Semin. Neurol.,2014

2. JASPAC: Japan Spastic Paraplegia Research Consortium

3. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia;Fonknechten;Hum. Mol. Genet.,2000

4. Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations;McMonagle;Neurology,2000

5. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia;McMonagle;Neurology,2004

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary spastic paraplegia type 4 (SPG4) in Russian patients;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2019

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