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 |
closedAccess | | 2001 | Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene | Campos, Yolanda; Fernández-Moreno, Miguel Ángel CSIC ORCID; Martín, Miguel A.; Bornstein, Belén CSIC; Garesse, Rafael CSIC ORCID; Arenas, Joaquín | 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 | | 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 |
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 | | 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 |
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 |
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 |