Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice

C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the disease. BAC transgenic mice were used to better understand the molecular mechanisms and repeat length effects of C9orf72 ALS/FTD. Genetic an...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Pattamatta, Amrutha, Nguyen, Lien, Olafson, Hailey R, Scotti, Marina M, Laboissonniere, Lauren A, Richardson, Jared, Berglund, J Andrew, Zu, Tao, Wang, Eric T, Ranum, Laura P W
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
General Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7906756/
https://ncbi.nlm.nih.gov/pubmed/33378537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa279
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