Rights | Preview | Issue Date | Title | Author(s) | Type |
openAccess |  | 6-Jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCID | artículo |
openAccess |  | 2019 | ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency | Vázquez-Fonseca, Luis; Schäefer, Jochen; Navas-Enamorado, Ignacio CSIC; Santos-Ocaña, Carlos CSIC ORCID ; Hernández-Camacho, Juan Diego; Guerra, Ignacio CSIC; Cascajo Almenara, M. V. CSIC ORCID; Sánchez-Cuesta, Ana CSIC ORCID; Horvath, Zoltan; Siendones, Emilio CSIC; Jou, Cristina; Casado, Mercedes; Gutierrez-Rios, Purificacion CSIC; Brea-Calvo, Gloria CSIC ORCID; López-Lluch, Guillermo CSIC ORCID CVN ; Fernández-Ayala, Daniel J. M.; Cortés-Rodríguez, Ana Belén CSIC ORCID; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Matté, Cristiane; Ribes, Antonia; Prieto-Soler, Sandra Y.; Dominguez-del-Toro, Eduardo; Francesco, Andrea Di; Aon, Miguel A.; Bernier, Michel; Salviati, Leonardo; Artuch, Rafael; Cabo, Rafael de; Jackson, Sandra; Navas, Plácido CSIC ORCID | artículo |
openAccess |  | 30-Oct-2020 | Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus | Juárez-Flores, Diana-Luz; Ezquerra, Mario; González-Casacuberta, Ingrid; Ormazabal, Aida; Morén, Constanza; Tolosa, Eduardo; Fucho, Raquel CSIC ORCID; Guitart-Mampel, Mariona; Casado, Mercedes; Valldeoriola, Francesc; Torre-Lara, Joan de la; Muñoz, Esteban; Tobías Rossell, Ester; Compta, Yaroslau; García-García, Francesc Josep; García-Ruiz, Carmen CSIC ORCID ; Fernández-Checa, José C. CSIC ORCID; Martí, María-José; Grau, Josep María; Cardellach, Francesc; Artuch, Rafael; Fernández-Santiago, Rubén; Garrabou, Glòria | 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; Briones, Paz CSIC; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, Mercé; Artuch, Rafael | artículo |