Spinocerebellar ataxia type 21 exists in the Chinese Han population-Reference-Cited by-同舟云学术

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Spinocerebellar ataxia type 21 exists in the Chinese Han population

Published:2016-01-27 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Zeng Sheng,Zeng Junsheng,He Miao,Zeng Xianfeng,Zhou Yao,Liu Zhen,Xia Kun,Pan Qian,Jiang Hong,Shen Lu,Yan Xinxiang,Tang Beisha,Wang Junling

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep19897.pdf

Reference5 articles.

1. Harding, A. E. Classification of the hereditary ataxias and paraplegias. Lancet. 1(8334), 1151–1155 (1983).

2. Durr, A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 9(9), 885–894 (2010).

3. Devos, D. et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology. 56(2), 234–238 (2001).

4. Delplanque, J. et al. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain. 137(Pt 10), 2657–2663 (2014).

5. Segurel, L., Wyman, M. J. & Przeworski, M. Determinants of mutation rate variation in the human germline. Annu Rev Genomics Hum Genet. 15, 47–70 (2014).

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1. Tremor in Spinocerebellar Ataxia: A Scoping Review;Tremor and Other Hyperkinetic Movements;2024

2. Pearls & Oy-sters: SCA21 Due toTMEM240Variation Presenting as Myoclonus Dystonia Syndrome;Neurology;2022-07-08

3. Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer;Molecular Medicine;2022-06-17

4. On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy;Neurology Genetics;2022-05-31

5. The First Korean Family of Spinocerebellar Ataxia 21 (ATX-TMEM240) with Facial Dystonic Phenotype;The Cerebellum;2022-01-10

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