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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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General Article
Acesso em linha: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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