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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Bibliografski detalji
Izdano u:Neurology
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2018
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Article
Online pristup: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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