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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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| Publié dans: | Neurology |
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| Auteurs principaux: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Lippincott Williams & Wilkins
2018
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| Sujets: | |
| Accès en ligne: | 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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