Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies

by Fernández-Ayala, Daniel J M, Guerra, Ignacio, Jiménez-Gancedo, Sandra, Cascajo, Maria V, Gavilán, Angela, DiMauro, Salvatore, Hirano, Michio, Briones, Paz, Artuch, Rafael, De Cabo, Rafael, Salviati, Leonardo, Navas, Plácido
Published 2013

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

by Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael
Published 2014

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

by Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén
Published 2015