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 ; DiMauro, Salvatore; Hirano, Michio | artículo |
closedAccess | | 20-Mar-2008 | Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes | Montero, Raquel; Sánchez-Alcázar, José Antonio ; Briones, Paz; Rodríguez-Hernández, Ángeles ; Cordero, Mario D. ; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido ; Artuch, Rafael | artículo |
closedAccess |  | 2011 | Coenzyme Q deficiency in muscle | Trevisson, Eva; DiMauro, Salvatore; Navas, Plácido ; Salviati, Leonardo | artículo |
openAccess |  | 2014 | Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency | Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos ; Hildebrandt, Friedhelm; Navas, Plácido ; Salviati, Leonardo | artículo |
closedAccess | | 18-May-2008 | Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis | Casarin, Alberto; Jiménez-Ortega, José Carlos ; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos ; Navas, Plácido ; Salviati, Leonardo | artículo |
closedAccess | | 24-Aug-2009 | Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations | Trevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido ; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardo | artículo |
openAccess |  | 2012 | Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency | Salviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles ; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos ; Navas, Plácido  | 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 ; Cordero, Mario D. ; Sánchez-Alcázar, José Antonio ; Santos-Ocaña, Carlos ; Navas, Plácido  | artículo |
openAccess |  | 2014 | Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis | Nguyen, Theresa P. T.; Casarin, Alberto; Desbats, María Andrea; Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos ; Navas, Plácido ; Clarke, Catherine F.; Salviati, Leonardo | artículo |
closedAccess |  | 2015 | Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure | Desbats, María Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles ; Trevisson, Eva; Navas, Plácido ; Zuffardi, Orsetta; Salviati, Leonardo | artículo |
closedAccess |  | 2016 | The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency | Desbats, María Andrea; Doimo, Mara; Navas, Plácido ; Salviati, Leonardo; Trevisson, Eva | artículo |
openAccess |  | 10-Jul-2019 | Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 | Acosta-López, Manuel J.; Trevisson, Eva; Canton, Marcella; Vázquez-Fonseca, Luis; Morbidoni, Valeria; Baschiera, Elisa; Frasson, Chiara; Ludovic, Pelosi; Rascalou, Bérengère; Desbats, Maria Andrea; Alcázar-Fabra, María; Ríos, José Julián; Sánchez-García, Alicia ; Basso, Giuseppe; Navas, Plácido ; Pierrel, Fabien; Brea-Calvo, Gloria ; Salviati, Leonardo | artículo |