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Browsing by Author Casado, Mercedes

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openAccess2013 JIMD Rep 7-123.pdf.jpg6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC ORCID; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCIDartículo
openAccessADCK2_ Vazquez_Fonseca_Art2019.pdf.jpg2019ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ DeficiencyVázquez-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 ORCIDartículo
openAccessantioxidants-09-01063.pdf.jpg30-Oct-2020Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes MellitusJuárez-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-Junyent, Josep María; Cardellach, Francesc; Artuch, Rafael; Fernández-Santiago, Rubén; Garrabou, Glòriaartículo
closedAccessaccesoRestringido.pdf.jpg2012Mild 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, Rafaelartículo
openAccess1-s2.0-S2213231723002021-main.pdf.jpgAug-2023The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuriaMayayo-Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino Guarch, Meritxell; Vilches, Clara; Muñoz, Lourdes CSIC ORCID; Asensi, Miguel A.; Serra, Carmen CSIC ORCID; Llebaria, Amadeu CSIC ORCID; Casado, Mercedes; Artuch, Rafael; Garrabou, Gloria; Garcia-Roves, Pablo M.; Pallardó, Federico V.; Nunes, Virginiaartículo
openAccessApr-2023Unravelling inclusion body myositis using a patient-derived fibroblast modelCantó-Santos, Judith; Valls-Roca, Laura; Tobías Rossell, Ester; García-García, Francesc Josep; Guitart-Mampel, Mariona; Esteve-Codina, Anna; Martín-Mur, Beatriz; Casado, Mercedes; Artuch, Rafael; Solsona-Vilarrasa, Estel CSIC ORCID; Fernández-Checa, José C. CSIC ORCID; García-Ruiz, Carmen CSIC ORCID ; Rentero, Carles; Enrich, Carlos; Moreno-Lozano, Pedro J.; Milisenda, José César; Cardellach, Francesc; Grau-Junyent, Josep María; Garrabou, Glòriaartículo