A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease

Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations i...

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Publicado no:Hum Mol Genet
Main Authors: Beraldi, Rosanna, Chan, Chun-Hung, Rogers, Christopher S., Kovács, Attila D., Meyerholz, David K., Trantzas, Constantin, Lambertz, Allyn M., Darbro, Benjamin W., Weber, Krystal L., White, Katherine A.M., Rheeden, Richard V., Kruer, Michael C., Dacken, Brian A., Wang, Xiao-Jun, Davis, Bryan T., Rohret, Judy A., Struzynski, Jason T., Rohret, Frank A., Weimer, Jill M., Pearce, David A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4614707/
https://ncbi.nlm.nih.gov/pubmed/26374845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv356
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