Parkinson’s disease associated with pure ATXN10 repeat expansion

Large, non-coding pentanucleotide repeat expansions of ATTCT in intron 9 of the ATXN10 gene typically cause progressive spinocerebellar ataxia with or without seizures and present neuropathologically with Purkinje cell loss resulting in symmetrical cerebellar atrophy. These ATXN10 repeat expansions...

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Vydáno v:NPJ Parkinsons Dis
Hlavní autoři: Schüle, Birgitt, McFarland, Karen N., Lee, Kelsey, Tsai, Yu-Chih, Nguyen, Khanh-Dung, Sun, Chao, Liu, Mei, Byrne, Christie, Gopi, Ramesh, Huang, Neng, Langston, J. William, Clark, Tyson, Gil, Francisco Javier Jiménez, Ashizawa, Tetsudo
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585403/
https://ncbi.nlm.nih.gov/pubmed/28890930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41531-017-0029-x
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