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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: gaudiano c. 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.
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: gaudiano c. 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: gaudiano c. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
Malandrini A, D'Eramo C, Palmeri S, Gaudiano C, Gambelli S, Sicurelli F, Berti G, Formichi P, Kuqo A, Dotti MT, Federico A. Malandrini A, et al. Among authors: gaudiano c. Neurol Sci. 2013 Jan;34(1):79-83. doi: 10.1007/s10072-012-0956-6. Epub 2012 Jan 25. Neurol Sci. 2013. PMID: 22274816
Diagnostic value of ultrastructural skin biopsy studies in CADASIL.
Malandrini A, Gaudiano C, Gambelli S, Berti G, Serni G, Bianchi S, Federico A, Dotti MT. Malandrini A, et al. Among authors: gaudiano c. Neurology. 2007 Apr 24;68(17):1430-2. doi: 10.1212/01.wnl.0000264018.46335.c8. Neurology. 2007. PMID: 17452591 No abstract available.
101 results