Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 | | ago-2019 | Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy | Domínguez‐González, Cristina; Madruga, Marcos CSIC; Mavillard, Fabiola CSIC ORCID; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, Maria Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín-Hernández, Elena; Morealejo‐Aycinena, Juan P.; Munell, Francina; Nascimento, Andrés; Kalko, Susana Graciela; Sardina, M. Dolores; Álvarez del Vayo Benito, Concepción CSIC; Serrano, Olga; Long, Yuelin; Tu, Yuqi; Levin, Bruce; Thompson, John L. P.; Engelstad, Kristen; Uddin, Jasim; Torres‐Torronteras, Javier; Jiménez‐Mallebrera, Cecilia; Martí, Ramón; Paradas, Carmen CSIC ORCID CVN; Hirano, Michio | artículo |
closedAccess | | 30-sep-2014 | Fhl1 W122S causes loss of protein function and late-onset mild myopathy | Emmanuele, Valentina; Sánchez-Gutiérrez, Daniel CSIC; Escudero, Luis M. CSIC ORCID; 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 ; 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 | | 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 |
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 ; Navas, Plácido CSIC ORCID | artículo |
openAccess | | 6-may-2019 | Late-onset thymidine kinase 2 deficiency: a review of 18 cases | Domínguez-Gonzalez, Cristina; Hernández-Laín, Aurelio; Riva, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; Fuiza-Luces, Carmen; García-García, Jorge; Moris, Germán; Olivé, Montse; Miralles, Frances; Díaz-Manera, Jordi; Caballero-Eraso, Candela CSIC ORCID; Méndez-Ferrer, Bosco; Martí, Ramón; García Arumi, Elena; Badosa, María Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martín, Miguel Ángel; Paradas, Carmen CSIC ORCID CVN | artículo |
closedAccess | | 20-mar-2007 | Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis | López-Martín, José María; 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 ; Navas, Plácido CSIC ORCID | artículo |
closedAccess | | 29-ene-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 |
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 CSIC; Jiménez-Gancedo, Sandra CSIC; Cascajo Almenara, M. V. CSIC ORCID; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz CSIC; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, Plácido CSIC ORCID | artículo |
closedAccess | | 2014 | Thymidine phosphorylase participates in platelet signaling and promotes thrombosis | Li, Wei; Gigante, Alba CSIC ORCID; Peréz-Pérez, María-Jesús CSIC ORCID ; Yue, H.; Hirano, Michio; McIntyre, T. M.; Silverstein, R. L. | artículo |