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Browsing by Author Arenas, Joaquín

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Showing results 1 to 15 of 15
RightsIssue DateTitleAuthor(s)
closedAccess2006Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish populationBlázquez, Alberto; Bornstein, Belén; Campos, Yolanda; Fernández-Moreno, Miguel Ángel; Garesse, Rafael; Arenas, Joaquín; Martín, Miguel A.
closedAccess2010Depleción del ácido desoxirribonucleico mitocondrial y mutaciones de POLG en un paciente con neuropatía sensorial atáxica, disartria y oftalmoplejíaPosada, Ignacio J.; Gallardo, M. Esther; Domínguez, Cristina; Rivera, Henry; Arenas, Joaquín; Martín, Miguel A.; Garesse, Rafael; Bornstein, Belén
closedAccess2001Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II geneCampos, Yolanda; Fernández-Moreno, Miguel Ángel; Martín, Miguel A.; Bornstein, Belén; Garesse, Rafael; Arenas, Joaquín
closedAccess2005Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIEBlázquez, Alberto; Martín, Miguel A.; Campos, Yolanda; Garesse, Rafael; Bautista, José M.; Arenas, Joaquín
closedAccess2005Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 geneMartín, Miguel A.; Garesse, Rafael; Campos, Yolanda; Arenas, Joaquín
closedAccess2007Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicaseRivera, Henry; Blázquez, Alberto; Campos, Yolanda; Bornstein, Belén; Garesse, Rafael; Arenas, Joaquín; Martín, Miguel A.
closedAccessMay-2010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.Morán, M.; Rivera, H.; Sánchez-Aragó, María; Blázquez, A.; Merinero, Begoña; Ugalde, Cristina; Arenas, Joaquín; Cuezva, José M.; Martín, M. A.
closedAccess2001Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL familyBornstein, Belén; Fernández-Moreno, Miguel Ángel; Martín, Miguel A.; Campos, Yolanda; Arenas, Joaquín; Garesse, Rafael
closedAccess1998Mitochondrial gene expression and respiratory enzyme activities in cardiac diseasesBornstein, Belén; Ochoa, Pilar; Garesse, Rafael; Arenas, Joaquín
closedAccess2012Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathiesArredondo, Juan J.; Gallardo, M. Esther; García-Pavía, Pablo; Domingo, Verónica; Bretón, Begoña; Martín, Miguel A.; Arenas, Joaquín; Cervera, Margarita; Garesse, Rafael; Bornstein, Belén
openAccess2008OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesAmati-Bonneau, Patrizia; Gallardo, M. Esther; Bornstein, Belén; Campos, Yolanda; Rivera, Henry; Martín, Miguel A.; Arenas, Joaquín; Garesse, Rafael; Carelli, Valerio
closedAccessMar-2003Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-a in L929 cellsSánchez-Alcázar, José Antonio; Bornstein, Belén; Arenas, Joaquín; Garesse, Rafael; Navas, Plácido
closedAccess2002The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell linesBornstein, Belén; Mas, José A.; Fernández-Moreno, Miguel Ángel; Campos, Yolanda; Martín, Miguel A.; Arenas, Joaquín; Garesse, Rafael
closedAccess2000The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genesFernández-Moreno, Miguel Ángel; Bornstein, Belén; Campos, Yolanda; Arenas, Joaquín; Garesse, Rafael
closedAccess2001Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal ratsMartínez, Bienvenida; Martín, Miguel A.; Arenas, Joaquín; Pérez Castillo, Ana; Santos, Ángel