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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: spinazzola a. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M. Nishino I, et al. Among authors: spinazzola a. Ann Neurol. 2000 Jun;47(6):792-800. Ann Neurol. 2000. PMID: 10852545
MNGIE: from nuclear DNA to mitochondrial DNA.
Nishino I, Spinazzola A, Hirano M. Nishino I, et al. Among authors: spinazzola a. Neuromuscul Disord. 2001 Jan;11(1):7-10. doi: 10.1016/s0960-8966(00)00159-0. Neuromuscul Disord. 2001. PMID: 11166160 Review.
Altered thymidine metabolism due to defects of thymidine phosphorylase.
Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M. Spinazzola A, et al. J Biol Chem. 2002 Feb 8;277(6):4128-33. doi: 10.1074/jbc.M111028200. Epub 2001 Dec 3. J Biol Chem. 2002. PMID: 11733540 Free article.
Nuclear genes in mitochondrial disorders.
Zeviani M, Spinazzola A, Carelli V. Zeviani M, et al. Among authors: spinazzola a. 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.
Mitochondrial disorders.
Zeviani M, Spinazzola A. Zeviani M, et al. Among authors: spinazzola a. 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.
157 results