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A new model to study neurodegeneration in ataxia oculomotor apraxia type 2

Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fib...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Becherel, Olivier J., Sun, Jane, Yeo, Abrey J., Nayler, Sam, Fogel, Brent L., Gao, Fuying, Coppola, Giovanni, Criscuolo, Chiara, De Michele, Giuseppe, Wolvetang, Ernst, Lavin, Martin F.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4581605/
https://ncbi.nlm.nih.gov/pubmed/26231220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv296
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