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Browsing by Author Jou, Cristina

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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
closedAccessaccesoRestringido.pdf.jpg2013cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn periodPalanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén CSIC ORCID; Ormazabal, Aida; Fowler, Brian; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido CSIC ORCID; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Ritaartículo
openAccessCoenzyme_Paredes_PV_Art2020.pdf.jpg2020Coenzyme Q10 Treatment Monitoring in Different Human Biological SamplesParedes-Fuentes, Abraham J.; Montero, Raquel; Codina, Anna; Jou, Cristina; Fernandez, Guerau; Maynou, Joan; Santos-Ocaña, Carlos CSIC ORCID ; Riera, Joan; Navas, Plácido CSIC ORCID; Drobnic, Franchek; Artuch, Rafaelartículo
openAccessijms-24-06358.pdf.jpg28-Mar-2023Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal MicroscopyCodina, Anna; Roldán, Mònica; Natera-de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesús; Jiménez-Mallebrera, Cecilia; Porta, Josep M. CSIC ORCID ; Nascimento, Andrés; Jou, Cristinaartículo
openAccessJournal of Clinical Investigation_Planas-Serra_2023.pdf.jpg15-May-2023Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityPlanas-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, Auroraartículo