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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Limited
2012
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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 |
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