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Mitochondrial disorders.
Zeviani M, Spinazzola A. Zeviani M, et al. Curr Neurol Neurosci Rep. 2003 Sep;3(5):423-32. doi: 10.1007/s11910-003-0026-9. Curr Neurol Neurosci Rep. 2003. PMID: 12914686 Review.
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V. Valente L, et al. Among authors: zeviani m. Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15. Biochim Biophys Acta. 2009. PMID: 18977334 Free article.
Nuclear genes in mitochondrial disorders.
Zeviani M, Spinazzola A, Carelli V. Zeviani M, et al. Curr Opin Genet Dev. 2003 Jun;13(3):262-70. doi: 10.1016/s0959-437x(03)00052-2. Curr Opin Genet Dev. 2003. PMID: 12787788 Review.
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27. J Inherit Metab Dis. 2009. PMID: 19125351
469 results