Mostrando resultados 7 a 21 de 21
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| openAccess |  | 6-may-2019 | Late-onset thymidine kinase 2 deficiency: a review of 18 cases | Domínguez-Gonzalez, Cristina; Hernández-Laín, Aurelio; Riva, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; Fuiza-Luces, Carmen; García-García, Jorge; Moris, Germán; Olivé, Montse; Miralles, Frances; Díaz-Manera, Jordi; Caballero-Eraso, Candela CSIC ORCID; Méndez-Ferrer, Bosco; Martí, Ramón; García Arumi, Elena; Badosa, María Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martín, Miguel Ángel; Paradas, Carmen CSIC ORCID | artículo |
| closedAccess |  | 2005 | Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene | Martín, Miguel A.; Garesse, Rafael CSIC ORCID; Campos, Yolanda; Arenas, Joaquín | artículo |
| openAccess |  | dic-2022 | Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment? | Villarreal-Salazar, M.; Santalla, A.; Real-Martínez, A.; Nogales-Gadea, G.; Valenzuela, P. L.; Fiuza-Luces, C.; Andreu, Antoni L.; Rodríguez-Aguilera, Juan Carlos CSIC ORCID; Martín, Miguel A.; Arenas, Joaquín; Vissing, J.; Lucía, A.; Krag, T. O.; Pinós, T. | 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 |
| closedAccess |  | 2001 | Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family | Bornstein, Belén CSIC; Fernández-Moreno, Miguel Ángel CSIC ORCID; Martín, Miguel A.; Campos, Yolanda; Arenas, Joaquín; Garesse, Rafael CSIC ORCID | artículo |
| closedAccess |  | 1998 | Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases | Bornstein, Belén CSIC; Ochoa, Pilar CSIC; Garesse, Rafael CSIC ORCID; Arenas, Joaquín | artículo |
| closedAccess |  | 2012 | Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies | Arredondo, Juan J. CSIC; Gallardo, M. Esther CSIC ORCID; García-Pavía, Pablo; Domingo, Verónica; Martín, Miguel A.; Arenas, Joaquín; Cervera, Margarita CSIC; Garesse, Rafael CSIC ORCID; Bornstein, Belén CSIC | artículo |
| openAccess |  | 2008 | OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes | Amati-Bonneau, Patrizia; Gallardo, M. Esther CSIC ORCID; Bornstein, Belén CSIC; Campos, Yolanda; Rivera, Henry; Martín, Miguel A.; Arenas, Joaquín; Garesse, Rafael CSIC ORCID; Carelli, Valerio | artículo |
| openAccess |  | 1-jul-2023 | Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse | Fernández de la Torre, Miguel; Fiuza-Luces, Carmen; Laine-Menéndez, Sara CSIC; Delmiro, Aitor; Arenas, Joaquín; Martín, Miguel Ángel; Lucia, Alejandro; Morán, María | artículo |
| closedAccess |  | mar-2003 | Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-a in L929 cells | Sánchez-Alcázar, José Antonio CSIC ORCID ; Schneider, Erasmus; Hernández-Muñoz, Inmaculada; Ruiz-Cabello, Jesús; Siles, Eva; Torre, Paz de la; Bornstein, Belén CSIC; Brea-Calvo, Gloria CSIC ORCID; Arenas, Joaquín; Garesse, Rafael CSIC ORCID; Solís-Herruzo, José A.; Knox, Alan J.; Navas, Plácido CSIC ORCID | artículo |
| closedAccess |  | 2002 | The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines | Bornstein, Belén CSIC; Mas, José A.; Fernández-Moreno, Miguel Ángel CSIC ORCID; Campos, Yolanda; Martín, Miguel A.; Arenas, Joaquín; Garesse, Rafael CSIC ORCID | artículo |
| closedAccess |  | 2000 | The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes | Fernández-Moreno, Miguel Ángel CSIC ORCID; Bornstein, Belén CSIC; Campos, Yolanda; Arenas, Joaquín; Garesse, Rafael CSIC ORCID | artículo |
| closedAccess |  | 2001 | Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats | Martínez, Bienvenida; Martín, Miguel A.; Arenas, Joaquín; Pérez Castillo, Ana CSIC ORCID; Santos, Ángel | artículo |
