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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Udgivet i:Neurology
Main Authors: 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
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2018
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Article
Online adgang: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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