Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia-Reference-Cited by-同舟云学术

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Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

Published:2016-05 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Cai Xiaodong,Chen Xin,Wu Song,Liu Wenlan,Zhang Xiejun,Zhang Doudou,He Sijie,Wang Bo,Zhang Mali,Zhang Yuan,Li Zongyang,Luo Kun,Cai Zhiming,Li Weiping

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep25834.pdf

Reference38 articles.

1. Fahn, S. Concept and classification of dystonia. Adv Neurol 50, 1–8 (1988).

2. Lohmann, K. & Klein, C. Genetics of dystonia: what’s known? What’s new? What’s next? Mov Disord 28, 899–905 (2013).

3. Ozelius, L. J. et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17, 40–8 (1997).

4. Nolte, D., Niemann, S. & Muller, U. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA 100, 10347–52 (2003).

5. Hersheson, J. et al. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann Neurol 73, 546–53 (2013).

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