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A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: da pozzo p. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C, Macucci M, Malandrini A, Margollicci M, Rubegni A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: da pozzo p. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
Mitochondria, oxidative stress and neurodegeneration.
Federico A, Cardaioli E, Da Pozzo P, Formichi P, Gallus GN, Radi E. Federico A, et al. Among authors: da pozzo p. 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.
32 results