Rights | Preview | Issue Date | Title | Author(s) | Type |
closedAccess | | Feb-2006 | A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency | Quinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido CSIC ORCID; DiMauro, Salvatore; Hirano, Michio | artículo |
closedAccess | | 18-May-2008 | Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis | Casarin, Alberto; Jiménez-Ortega, José Carlos CSIC; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos CSIC ORCID CVN ; Navas, Plácido CSIC ORCID; Salviati, Leonardo | artículo |
closedAccess |  | 2006 | Genetics of primary CoQ10 deficiency | Naini, Ali; Quinzii, Catarina; Navas, Plácido CSIC ORCID; DiMauro, Salvatore; Hirano, Michio | artículo de revisión |
openAccess |  | 2012 | Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency | Salviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles CSIC ORCID; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos CSIC ORCID CVN ; Navas, Plácido CSIC ORCID | artículo |
closedAccess | | 20-Mar-2007 | Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis | López-Martín, José M.; Salviati, Leonardo; Trevisson, Eva; Montini, Giovanni; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Santos-Ocaña, Carlos CSIC ORCID CVN ; Navas, Plácido CSIC ORCID | artículo |
closedAccess | | 29-Jan-2008 | Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency | Quinzii, Catarina; López, Luis C.; Von-Moltke, Jakob; Naini, Ali; Krishna, Sindu; Schuelke, Markus; Salviati, Leonardo; Navas, Plácido CSIC ORCID; DiMauro, Salvatore; Hirano, Michio | artículo |