Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia-Reference-Cited by-同舟云学术

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia

Published:2018-01-23 Issue:4 Volume:63 Page:521-524
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lin Pengfei,Zhang Dong,Xu Guangrun,Yan Chuanzhu

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0394-7.pdf

Reference14 articles.

1. Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3:291–304.

2. Matilla-Duenas A, Corral-Juan M, Volpini V, Sanchez I. The spinocerebellar ataxias: clinical aspects and molecular genetics. Adv Exp Med Biol. 2012;724:351–74.

3. Klockgether T. The clinical diagnosis of autosomal dominant spinocerebellar ataxias. Cerebellum. 2008;7:101–5.

4. Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum. 2005;4:2–6.

5. Liu Z, Zeng S, Zeng J, Zhou Y, Zeng X, Jiang H, et al. SCA38 is rare in Mainland China. J Neurol Sci. 2015;358:333–4.

Cited by 7 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. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias;The Cerebellum;2023-03-31

2. Ataxia;Movement Disorders in Childhood;2022

3. Orphan Peripheral Neuropathies;Journal of Neuromuscular Diseases;2021-01-01

4. Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias;Frontiers in Neuroscience;2020-07-16

5. Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias;Frontiers in Neuroscience;2020-04-02