Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 2006 | Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population | Blázquez, Alberto; Bornstein, Belén CSIC; Campos, Yolanda; Fernández-Moreno, Miguel Ángel CSIC ORCID; Garesse, Rafael CSIC ORCID; Arenas, Joaquín; Martín, Miguel A. | artículo |
openAccess | | 2013 | Cardiac dysfunction in mitochondrial disease. Clinical and molecular features | García-Pavía, Pablo; Blázquez, Alberto; Martín, Miguel A.; Garesse, Rafael CSIC ORCID; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID | artículo |
openAccess | | 2016 | Functional characterization of three concomitant MtDNA LHON mutations shows no synergistic effect on mitochondrial activity | Cruz-Bermúdez, Alberto CSIC ORCID; Vicente-Blanco, Ramiro J. CSIC; Hernández-Sierra, Rosana CSIC; Blázquez, Alberto; Martín, Miguel A.; Garesse, Rafael CSIC ORCID; Fernández-Moreno, Miguel Ángel CSIC ORCID | artículo |
closedAccess | | 2005 | Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE | Blázquez, Alberto; Martín, Miguel A.; Campos, Yolanda; Garesse, Rafael CSIC ORCID; Bautista, José M.; Arenas, Joaquín | artículo |
closedAccess | | 2007 | Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase | Rivera, Henry; Blázquez, Alberto; Campos, Yolanda; Bornstein, Belén CSIC; Garesse, Rafael CSIC ORCID; Arenas, Joaquín; Martín, Miguel A. | artículo |
closedAccess | | may-2010 | Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts. | Morán, María José; Rivera, Henry; Sánchez-Aragó, María CSIC; Blázquez, Alberto; Merinero, Begoña CSIC; Ugalde, Cristina; Arenas, Joaquín; Cuezva, José M. CSIC ORCID; Martín, Miguel Ángel | artículo |
openAccess | | 2022 | Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects | Buján, Núria; Morén, Constanza; García-García, Francesc J.; Blázquez, Alberto; Carnicer, Clara; Cortés, Ana Belén; Gónzalez, Cristina; López-Gallardo, Ester; Lozano, Ester; Moliner, Sonia; Gort, Laura; Tobías, Ester; Delmiro, Aitor; Martín, Miguel Ángel; Fernández-Moreno, Miguel Ángel CSIC ORCID; Ruiz-Pesini, Eduardo; Garcia-Arumí, Elena; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Garrabou, Glòria | artículo |