| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 CSIC ORCID ; Briones, Paz CSIC; Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafael | artículo |
| closedAccess |  | 2006 | Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation | Artuch, Rafael; Brea-Calvo, Gloria CSIC ORCID; Briones, Paz CSIC; Aracil, Asunción; Galván, Marta; Espinós, Carmen CSIC ORCID; Corral, Jordi; Volpini, Víctor; Ribes, Antonia; Andreu, Antoni L.; Palau Martínez, Francesc CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Navas, Plácido CSIC ORCID; Pineda, Mercé | artículo |
| openAccess |  | 1-ene-2009 | Coenzyme Q deficiency triggers mitochondria degradation by mitophagy | Rodríguez-Hernández, Ángeles CSIC ORCID; Cordero, Mario D. CSIC ORCID; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz CSIC; Gómez Izquierdo, Lourdes; Cotán, David CSIC; Navas, Plácido CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID | artículo |
| closedAccess |  | 2013 | Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes | Montero, Raquel; Briones, Paz CSIC; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
| closedAccess |  | 13-abr-2010 | Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up | Pineda, Mercé; Montero, Raquel; Martínez-Rubio, Dolores CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Navas, Plácido CSIC ORCID; Briones, Paz CSIC; Artuch, Rafael | artículo |
| closedAccess |  | 2012 | Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia) | Casado, Mercedes; O'Callaghan, M.; Montero, Raquel; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Briones, Paz CSIC; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, Mercé; Artuch, Rafael | artículo |
| openAccess |  | 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen CSIC ORCID; Pineda, Mercé; Martínez-Rubio, Dolores CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | 2019 | Plasma coenzyme Q10 status is impaired in selected genetic conditions | Montero, Raquel; Yubero, Delia; Salgado, María C.; González, María Julieta; Campistol, Jaume; O’Callaghan, Maria del Mar; Pineda, Mercé; Delgadillo, Verónica; Maynou, Joan; Fernandez, Guerau; Montoya, Julio; Ruiz-Pesini, Eduardo; Meavilla, Silvia; Neergheen, Viruna; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Hargreaves, Iain; Artuch, Rafael | artículo |
| closedAccess |  | 2016 | Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content | Asencio, Claudio CSIC; Briones, Paz CSIC; Gavilán, Angela; Yubero, Delia; Montero, Raquel; Pineda, Mercé; Alcázar-Fabra, María CSIC ORCID; Salviati, Leonardo; Artuch, Rafael; Navas, Plácido CSIC ORCID | artículo |
| openAccess |  | 25-sep-2017 | The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome | Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura CSIC; Trotta, Jean-Rémi; Derdak, Sophia; O'Callaghan, María del Mar; García-Cazorla, Ángeles; Pineda, Mercé; Armstrong, Judith | artículo |
