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Data de publicacióTítolAutor(s)
6-maig-2015Severe TK2 enzyme activity deficiency in patients with mild forms of myopathyCámara Navarro, Yolanda; Carreño-Gago, Lidia; Martín, Miguel A.; Melià, Maria J.; Blázquez, Alberto; Delmiro, Aitor; Garrabou Tornos, Glòria; Morén Núñez, Constanza; Díaz-Manera, Jorge; Gallardo, Eduardo; Bornstein, Belén; López Gallardo, Ester; Hernández-Lain, Aurelio; San Millán, Beatriz; Cancho, Esther; Rodríguez Vico, Jaime; Martí, Ramon; García Arumí, Elena
9-feb-2018The Decrease In Mitochondrial DNA Mutation Load Parallels Visual Recovery In A Leber Hereditary Optic Neuropathy PatientEmperador, Sonia; Vidal, Mariona; Hernández Ainsa, Carmen; Ruiz Ruiz, Cristina; Woods, Daniel; Morales Becerra, Ana; Arruga Ginebreda, Jordi; Artuch Iriberri, Rafael; López Gallardo, Ester; Bayona Bafaluy, M. Pilar; Montoya, Julio; Ruiz Pesini, Eduardo
1-feb-2014Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathiesKalko, Susana; Paco Mercader, Sonia; Jou, Cristina; Rodríguez, María Angeles; Meznaric, Marija; Rogac, Mihael; Jekovec-Vrhovsek, Maja; Sciacco, Monica; Moggio, Maurizio; Fagiolari, Gigliola; De Paepe, Boel; De Meirleir, Linda; Ferrer, Isidro (Ferrer Abizanda); Roig Quilis, Manuel; Munell Casadesús, Francina; Montoya, Julio; López Gallardo, Ester; Ruiz Pesini, Eduardo; Artuch Iriberri, Rafael; Montero Sánchez, Raquel; Torner Rubies, Ferran; Nascimento, Andrés; Ortez, Carlos Ignacio; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia