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735 results

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Page 1
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. Among authors: dimauro s. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
Coenzyme Q deficiency in muscle.
Trevisson E, DiMauro S, Navas P, Salviati L. Trevisson E, et al. Among authors: dimauro s. Curr Opin Neurol. 2011 Oct;24(5):449-56. doi: 10.1097/WCO.0b013e32834ab528. Curr Opin Neurol. 2011. PMID: 21844807 Review.
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L. Casarin A, et al. Among authors: dimauro s. Orphanet J Rare Dis. 2012 Apr 19;7:21. doi: 10.1186/1750-1172-7-21. Orphanet J Rare Dis. 2012. PMID: 22515166 Free PMC article.
Restoring balance to ataxia with coenzyme Q10 deficiency.
Hirano M, Quinzii CM, Dimauro S. Hirano M, et al. Among authors: dimauro s. J Neurol Sci. 2006 Jul 15;246(1-2):11-2. doi: 10.1016/j.jns.2006.03.017. Epub 2006 May 5. J Neurol Sci. 2006. PMID: 16678207 No abstract available.
Human coenzyme Q10 deficiency.
Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: dimauro s. Neurochem Res. 2007 Apr-May;32(4-5):723-7. doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10. Neurochem Res. 2007. PMID: 17094036 Free PMC article. Review.
Mutations in coenzyme Q10 biosynthetic genes.
DiMauro S, Quinzii CM, Hirano M. DiMauro S, et al. J Clin Invest. 2007 Mar;117(3):587-9. doi: 10.1172/JCI31423. J Clin Invest. 2007. PMID: 17332886 Free PMC article.
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P. López-Martín JM, et al. Among authors: dimauro s. Hum Mol Genet. 2007 May 1;16(9):1091-7. doi: 10.1093/hmg/ddm058. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374725 Free PMC article.
735 results