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Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused by impaired expression of the FXN gene coding for the mitoch...

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Detalles Bibliográficos
Autores principales: Martelli, Alain, Friedman, Lisa S., Reutenauer, Laurence, Messaddeq, Nadia, Perlman, Susan L., Lynch, David R., Fedosov, Kathrin, Schulz, Jörg B., Pandolfo, Massimo, Puccio, Hélène
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484868/
https://www.ncbi.nlm.nih.gov/pubmed/22736457
http://dx.doi.org/10.1242/dmm.009829