Mostrando resultados 4 a 13 de 13
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2013 | cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn period | Palanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén CSIC ORCID; Ormazabal, Aida; Fowler, Brian; 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 |  | 15-mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, Irene; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ORCID ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
| closedAccess |  | 2013 | Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains | Alonso, Antonia; Merchán, Paloma; Sandoval, Juan E.; Sánchez-Arrones, Luisa CSIC; García-Cazorla, Angels; Artuch, Rafael; Martínez de la Torre, Margaret; Puelles, Luis; Ferrán, José Luis | artículo |
| closedAccess |  | 2021 | Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function | Santos-Gómez, Ana; Miguez-Cabello, Federico; García-Recio, Adrián; Locubiche-Serra, Sílvia; García-Díaz, Roberto; Soto-Insuga, Víctor; Guerrero-López, Rosa CSIC; Juliá-Palacios, Natalia; Ciruela, Francisco; García-Cazorla, Angels; Soto, David; Olivella, Mireia; Altafaj, Xavier | artículo |
| closedAccess |  | nov-2020 | Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency | Paredes-Fuentes, Abraham J.; Juliá-Palacios, Natalia; Yubero, Delia; Cascajo Almenara, M. V. CSIC ORCID; García-Cazorla, Angels; Santos-Ocaña, Carlos CSIC ORCID ; Artuch, Rafael | artículo |
| closedAccess |  | 2008 | Mitochondrial diseases mimicking neurotransmitter defects | García-Cazorla, Angels; Garesse, Rafael CSIC ORCID | 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 |
| openAccess |  | 15-may-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas-Serra, Laura; Launay, Nathalie; Goicoechea, Leire CSIC ORCID; Heron, Bénédicte; Jou, Cristina; Juliá-Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; De la Torre, Carolina; Gelot, Antoinette; Marsal, María CSIC ORCID; Loza-Álvarez, Pablo; García-Cazorla, Angels; Fatemi, Ali; Ferrer, Isidre CSIC; Portero-Otín, Manuel; Area-Gomez, Estela CSIC ORCID; Pujol, Aurora | artículo |
