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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: marti r. 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.
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. Among authors: marti r. 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.
Phenotypic variability in a Spanish family with MNGIE.
Gamez J, Ferreiro C, Accarino ML, Guarner L, Tadesse S, Martí RA, Andreu AL, Raguer N, Cervera C, Hirano M. Gamez J, et al. Among authors: marti ra. Neurology. 2002 Aug 13;59(3):455-7. doi: 10.1212/wnl.59.3.455. Neurology. 2002. PMID: 12177387
Analysis of human mitochondrial DNA mutations.
Andreu AL, Martí R, Hirano M. Andreu AL, et al. Among authors: marti r. Methods Mol Biol. 2003;217:185-97. doi: 10.1385/1-59259-330-5:185. Methods Mol Biol. 2003. PMID: 12491933 No abstract available.
677 results