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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.
Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D. Ardissone A, et al. Among authors: garavaglia b. Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1. Neurology. 2015. PMID: 25934856 Free PMC article. No abstract available.
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
Poggi GM, Lamantea E, Ciani F, Donati MA, Carrara F, Bartalena L, Garavaglia B, Zammarchi E. Poggi GM, et al. Among authors: garavaglia b. J Inherit Metab Dis. 2000 Nov;23(7):755-7. doi: 10.1023/a:1005663804214. J Inherit Metab Dis. 2000. PMID: 11117438 No abstract available.
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: garavaglia b. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M. Ghezzi D, et al. Among authors: garavaglia b. Eur J Hum Genet. 2005 Jun;13(6):748-52. doi: 10.1038/sj.ejhg.5201425. Eur J Hum Genet. 2005. PMID: 15827561 Free article.
230 results