Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

OBJECTIVE: Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G(4)C(2)/C(4)G(2) RNA foci, and dipeptide repeat (DPR) proteins translated from the G(4)C(2) expansion; however, the role of small expansi...

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Publicado en:Neurology
Autores principales: McGoldrick, Philip, Zhang, Ming, van Blitterswijk, Marka, Sato, Christine, Moreno, Danielle, Xiao, Shangxi, Zhang, Ashley B., McKeever, Paul M., Weichert, Anna, Schneider, Raphael, Keith, Julia, Petrucelli, Leonard, Rademakers, Rosa, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5798652/
https://ncbi.nlm.nih.gov/pubmed/29282338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004865
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