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Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase.
Koga Y, Fabrizi GM, Mita S, Arnaudo E, Lomax MI, Aqua MS, Grossman LI, Schon EA. Koga Y, et al. Among authors: fabrizi gm. Nucleic Acids Res. 1990 Feb 11;18(3):684. doi: 10.1093/nar/18.3.684. Nucleic Acids Res. 1990. PMID: 2155413 Free PMC article. No abstract available.
Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA. DiMauro S, et al. Among authors: fabrizi gm. Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025. Pediatr Res. 1990. PMID: 2175026 Review.
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Gregianin E, Pallafacchina G, Zanin S, Crippa V, Rusmini P, Poletti A, Fang M, Li Z, Diano L, Petrucci A, Lispi L, Cavallaro T, Fabrizi GM, Muglia M, Boaretto F, Vettori A, Rizzuto R, Mostacciuolo ML, Vazza G. Gregianin E, et al. Among authors: fabrizi gm. Hum Mol Genet. 2016 Sep 1;25(17):3741-3753. doi: 10.1093/hmg/ddw220. Epub 2016 Jul 8. Hum Mol Genet. 2016. PMID: 27402882 Free article.
168 results