ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9orf72, polyglutamine expansions in ATXN2 and polyal...

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Publicat a:Brain Commun
Autors principals: Tazelaar, Gijs H P, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke J F A, Kool, Lindy, Goedee, H Stephan, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot M, van der Spek, Rick A, Westeneng, Henk-Jan, Kenna, Kevin P, Assialioui, Abdelilah, Da Silva, Nica, Povedano, Mónica, Pardina, Jesus S Mora, Hardiman, Orla, Salachas, François, Millecamps, Stéphanie, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Pasterkamp, R Jeroen, Landers, John E, Van Den Bosch, Ludo, Robberecht, Wim, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Veldink, Jan H, van Es, Michael A
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7425293/
https://ncbi.nlm.nih.gov/pubmed/32954321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcaa064
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