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Page 1
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX.
Rossini L, Bonardi CM, Bresolin S, Trevisson E, Marzollo A. Rossini L, et al. Among authors: trevisson e. J Clin Immunol. 2024 Apr 16;44(4):100. doi: 10.1007/s10875-024-01702-z. J Clin Immunol. 2024. PMID: 38625673 No abstract available.
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R, Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S, Salviati L. Sacconi S, et al. Among authors: trevisson e. Biochem Biophys Res Commun. 2005 Nov 25;337(3):832-9. doi: 10.1016/j.bbrc.2005.09.127. Epub 2005 Sep 29. Biochem Biophys Res Commun. 2005. PMID: 16212937
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: trevisson e. 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.
A functionally dominant mitochondrial DNA mutation.
Sacconi S, Salviati L, Nishigaki Y, Walker WF, Hernandez-Rosa E, Trevisson E, Delplace S, Desnuelle C, Shanske S, Hirano M, Schon EA, Bonilla E, De Vivo DC, DiMauro S, Davidson MM. Sacconi S, et al. Among authors: trevisson e. Hum Mol Genet. 2008 Jun 15;17(12):1814-20. doi: 10.1093/hmg/ddn073. Epub 2008 Mar 12. Hum Mol Genet. 2008. PMID: 18337306 Free PMC article.
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L. Casarin A, et al. Among authors: trevisson e. Biochem Biophys Res Commun. 2008 Jul 18;372(1):35-9. doi: 10.1016/j.bbrc.2008.04.172. Epub 2008 May 12. Biochem Biophys Res Commun. 2008. PMID: 18474229 Free PMC article.
96 results