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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Publicat a:Hum Mol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
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Articles
Accés en línia: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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