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| 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 |
| openAccess |  | 2019 | ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency | Vázquez-Fonseca, Luis; Schäefer, Jochen; Navas-Enamorado, Ignacio; Santos-Ocaña, Carlos ; Hernández-Camacho, Juan Diego; Guerra, Ignacio; Cascajo Almenara, M. V. ; Sánchez-Cuesta, Ana; Horvath, Zoltan; Siendones, Emilio ; Jou, Cristina; Casado, Mercedes; Gutierrez-Rios, Purificacion; Brea-Calvo, Gloria ; López-Lluch, Guillermo ; Fernández-Ayala, Daniel J. M.; Cortés-Rodríguez, Ana Belén; Rodríguez-Aguilera, Juan Carlos ; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y.; Dominguez-del-Toro, Eduardo; Francesco, Andrea Di; Aon, Miguel A.; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido | artículo |
| openAccess |  | Jan-2016 | ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan Manuel ; Marco-Marín, Clara ; Gougeard, Nadine ; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente ; Seri, Marco | 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 |  | 1-Jan-2009 | Coenzyme Q deficiency triggers mitochondria degradation by mitophagy | Rodríguez-Hernández, Ángeles ; Cordero, Mario D. ; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz; Gómez Izquierdo, Lourdes; Cotán, David ; Navas, Plácido ; Sánchez-Alcázar, José Antonio | artículo |
| closedAccess | | 2009 | Coenzyme Q10 deficiencies in neuromuscular diseases | Artuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Navas, Plácido | capítulo de libro |
| closedAccess |  | 2013 | Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes | Montero, Raquel; Briones, Paz; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido | artículo |
| closedAccess | | 25-Nov-2008 | Coenzyme Q10 distribution in blood is altered in patients with Fibromyalgia | Cordero, Mario D. ; Moreno-Fernández, Ana M.; Miguel, Manuel de; Bonal, Pablo; Campa, Francisco; Jiménez-Jiménez, L. M.; Ruiz-Losada, A.; Sánchez-Domínguez, Benito; Sánchez-Alcázar, José Antonio ; Salviati, Leonardo; Navas, Plácido | 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 | | 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 ; DiMauro, Salvatore; Hirano, Michio | artículo |
| closedAccess |  | 2016 | Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content | Asencio, Claudio ; Briones, Paz; Gavilán, Angela; Yubero, Delia; Montero, Raquel; Pineda, Mercé; Alcázar-Fabra, María; Salviati, Leonardo; Artuch, Rafael; Navas, Plácido | artículo |
| openAccess |  | 2013 | Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies | Fernández-Ayala, Daniel J. M.; Guerra, Ignacio; Jiménez-Gancedo, Sandra; Cascajo Almenara, M. V. ; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, Plácido | 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 |
