Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has dem...

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Bibliografiske detaljer
Udgivet i:Mov Disord
Main Authors: O’Hearn, Elizabeth E., Hwang, Hyon S., Holmes, Susan E., Rudnicki, Dobrila D., Chung, Daniel W., Seixas, Ana I., Cohen, Rachael L., Ross, Christopher A., Trojanowski, John Q., Pletnikova, Olga, Troncoso, Juan C., Margolis, Russell L.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5127409/
https://ncbi.nlm.nih.gov/pubmed/26340331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.26348
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