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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Dades bibliogràfiques
Publicat a:Mov Disord
Autors principals: 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
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia: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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