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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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Pubblicato in:Hum Mol Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
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Accesso online: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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