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A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. Da Pozzo P, et al. Among authors: cardaioli e. Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223931 Free PMC article.
Mitochondria, oxidative stress and neurodegeneration.
Federico A, Cardaioli E, Da Pozzo P, Formichi P, Gallus GN, Radi E. Federico A, et al. Among authors: cardaioli e. J Neurol Sci. 2012 Nov 15;322(1-2):254-62. doi: 10.1016/j.jns.2012.05.030. Epub 2012 Jun 4. J Neurol Sci. 2012. PMID: 22669122 Review.
54 results