Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 2016 | A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities | Yubero, Delia; Montero, Raquel; García-Cazorla, Angels; Navas, Plácido CSIC ORCID; Artuch, Rafael | 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 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 | | 2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido CSIC ORCID; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita | artículo |
closedAccess | | 3-dic-2008 | Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report | Montero, Raquel; Sánchez-Alcázar, José Antonio CSIC ORCID ; Gallardo, M. Esther CSIC ORCID; Bornstein, Belén CSIC; Rivera, Henry; Martín, Miguel A.; Navas, Plácido CSIC ORCID; Artuch, Rafael | 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 |
openAccess | | 2020 | Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples | Paredes-Fuentes, Abraham J.; Montero, Raquel; Codina, Anna; Jou, Cristina; Fernandez, Guerau; Maynou, Joan; Santos-Ocaña, Carlos CSIC ORCID ; Riera, Joan; Navas, Plácido CSIC ORCID; Drobnic, Franchek; Artuch, Rafael | artículo |
closedAccess | | 13-abr-2010 | Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up | Pineda, Mercé; Montero, Raquel; Martínez-Rubio, Dolores CSIC; Palau Martínez, Francesc CSIC ORCID; Navas, Plácido CSIC ORCID; Briones, Paz CSIC; Artuch, Rafael | artículo |
closedAccess | | 2017 | Genetic rescue of mitochondrial and skeletal muscle impairment in an induced pluripotent stem cells model of coenzyme Q10 deficiency | Romero-Moya, Damià; Santos-Ocaña, Carlos CSIC ORCID ; Castaño, Justo P.; Rodríguez-Gómez, José A. CSIC ORCID; González-Rodríguez, Patricia CSIC ORCID; Fernández-Ayala, Daniel J. M.; Cascajo Almenara, M. V. CSIC ORCID; Montero, Raquel; Yubero, Delia; López-Barneo, José CSIC ORCID; Muñoz-Cánoves, Pura; Artuch, Rafael; Navas, Plácido CSIC ORCID; Menéndez, Pablo | artículo |
openAccess | | 22-jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez-Gonzalez, Cristina; Badosa, María Carmen; Madruga, Marcos CSIC; Martí, Itxaso; Paradas, Carmen CSIC ORCID CVN; Ortez, Carlos; Díaz-Manera, Jordi; Berardo, Andrés; Alonso-Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana Graciela; Blázquez-Bermejo, Cora; Cámara, Yolanda; Martí, Ramón; Mavillard, Fabiola CSIC ORCID; Martín, Miguel Ángel; Montoya, Julio; Ruiz-Pesini, Eduardo; Villarroya, Joan; Montero, Raquel; Villarroya, Francesc; Artuch, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez-Mallebrera, Cecilia | 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 |
closedAccess | | 2018 | Molecular diagnosis of coenzyme Q10 deficiency: an update | Yubero, Delia; Montero, Raquel; Santos-Ocaña, Carlos CSIC ORCID ; Salviati, Leonardo; Navas, Plácido 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 | Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders | Yubero, Delia; Montero, Raquel; Martín, Miguel A.; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Navas, Plácido CSIC ORCID; Artuch, Rafael; García-Cazorla, Angels; Rivas Infante, Eloy; Cascajo Almenara, M. V. CSIC ORCID; Alcázar-Fabra, María CSIC ORCID; Brea-Calvo, Gloria CSIC ORCID | 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 |