Mostrando resultados 25 a 44 de 48
< Anterior
Siguiente >
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 13-may-2021 | Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition | Esparza-Moltó, Pau B.; Romero-Carramiñana, Ines; Núñez de Arenas, Cristina CSIC ORCID; Pereira, Marta P. CSIC ORCID; Blanco, Noelia; Pardo, Beatriz CSIC ORCID; Bates, Georgina R.; Sánchez-Castillo, Carla; Artuch, Rafael; Murphy, Michael P.; Esteban, José A. CSIC ORCID; Cuezva, José M. CSIC ORCID | 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; 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 |  | 21-ago-2012 | Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases | Armayones, Manuel; Vilaseca, M. A.; Cutillas, Júlia; Fàbrega, Jordi; Fernández, Jorge J.; García, Mei; Egea, Natàlia; Pousada, Modesta; Gómez-Zuñiga, Beni; Pérez-Payarols, Jaume; Artuch, Rafael; Palau Martínez, Francesc CSIC ORCID; Serrano, Mercedes | 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 | | 21-jul-2022 | Image1_Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle.jpeg [Dataset] | Hernández-Camacho, Juan Diego; Fernández-Ayala, Daniel J. M.; Vicente-García, Cristina CSIC; Navas-Enamorado, Ignacio CSIC; López-Lluch, Guillermo CSIC ORCID CVN ; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; Cabo, Rafael de; Carvajal, Jaime J. CSIC ORCID; Navas, Plácido CSIC ORCID | dataset |
| openAccess | | 21-jul-2022 | Image2_Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle.jpeg [Dataset] | Hernández-Camacho, Juan Diego; Fernández-Ayala, Daniel J. M.; Vicente-García, Cristina CSIC; Navas-Enamorado, Ignacio CSIC; López-Lluch, Guillermo CSIC ORCID CVN ; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; Cabo, Rafael de; Carvajal, Jaime J. CSIC ORCID; Navas, Plácido CSIC ORCID | dataset |
| openAccess | | 21-jul-2022 | Image3_Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle.jpeg [Dataset] | Hernández-Camacho, Juan Diego; Fernández-Ayala, Daniel J. M.; Vicente-García, Cristina CSIC; Navas-Enamorado, Ignacio CSIC; López-Lluch, Guillermo CSIC ORCID CVN ; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; Cabo, Rafael de; Carvajal, Jaime J. CSIC ORCID; Navas, Plácido CSIC ORCID | dataset |
| openAccess | | 21-jul-2022 | Image4_Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle.jpeg [Dataset] | Hernández-Camacho, Juan Diego; Fernández-Ayala, Daniel J. M.; Vicente-García, Cristina CSIC; Navas-Enamorado, Ignacio CSIC; López-Lluch, Guillermo CSIC ORCID CVN ; Oliva, Clara; Artuch, Rafael; Garcia-Villoria, Judith; Ribes, Antonia; Cabo, Rafael de; Carvajal, Jaime J. CSIC ORCID; Navas, Plácido CSIC ORCID | dataset |
| openAccess |  | 8-mar-2023 | iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristán-Noguero, Alba; Fernández-Carasa, Irene; Calatayud, Carles; Bermejo-Casadesús, Cristina; Pons-Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia CSIC ORCID; Artigas, Francesc CSIC ORCID; Bortolozzi, Analía CSIC ORCID; Domingo-Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch, Rafael; Raya, Ángel; García-Cazorla, Àngels; Consiglio, Antonella | 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 |  | 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 |  | 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 |
| closedAccess |  | 2012 | Novel features in the evolution of adenylosuccinate lyase deficiency | Pérez-Dueñas, Belén; Sempere, Ángela; Campistol, Jaume; Alonso-Colmenero, Itziar; Díez, María; González, Verónica CSIC ORCID; Merinero, Begoña CSIC; Desviat, Lourdes R. CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | jul-2020 | Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia | Gallego, Diana; Leal, Fátima CSIC; Gámez, Alejandra CSIC ORCID; Castro, Margarita; Navarrete, Rosa; Sanchez-Lijarcio, Obdulia; Vitoria, Isidro; Bueno-Delgado, María; Belanger-Quintana, Amaya; Morais, Ana; Pedrón-Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Martínez, Aurora; Pérez, Belén 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 |
| 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 |  | 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 |
