Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1-Reference-Cited by-同舟云学术

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Published:2015-01-16 Issue:3 Volume:14 Page:378-381
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Bettencourt Conceição,de Yébenes Justo García,López-Sendón José Luis,Shomroni Orr,Zhang Xingqian,Qian Shu-Bing,Bakker Ingrid M. C.,Heetveld Sasja,Ros Raquel,Quintáns Beatriz,Sobrido María-Jesús,Bevova Marianna R.,Jain Shushant,Bugiani Marianna,Heutink Peter,Rizzu Patrizia

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s12311-014-0643-7.pdf

Reference9 articles.

1. Hersheson J, Haworth A, Houlden H. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat. 2012;33(9):1324–32.

2. Bettencourt C, Lopez-Sendon J, Garcia-Caldentey J, Rizzu P, Bakker I, Shomroni O, et al. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clinical genetics. 2014;85(2):154–8.

3. Shi CH. Schisler JC. Tan S, Song B, McDonough H, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Human molecular genetics. 2014;23(4):1013–24.

4. Shi Y, Wang J, Li JD, Ren H, Guan W, He M, et al. Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One. 2013;8(12):e81884.

5. Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, et al. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology. 2014;82(19):1749–50.

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