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Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation.
López-Gallardo E, Llobet L, Emperador S, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Among authors: emperador s. Environ Health Perspect. 2016 Sep;124(9):1399-405. doi: 10.1289/EHP182. Epub 2016 Apr 29. Environ Health Perspect. 2016. PMID: 27129022 Free PMC article.
CONCLUSIONS: In addition to the known genetic causes, our findings suggest that environmental exposure to TBTC might contribute to the etiology of striatal necrosis syndromes. CITATION: Lopez-Gallardo E, Llobet L, Emperador S, Montoya J, Ruiz-Pesini E. 2016. Effects …
CONCLUSIONS: In addition to the known genetic causes, our findings suggest that environmental exposure to TBTC might contribute to the etiol …
Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J. López-Gallardo E, et al. Among authors: emperador s. Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986921
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
Martínez-Romero Í, Herrero-Martín MD, Llobet L, Emperador S, Martín-Navarro A, Narberhaus B, Ascaso FJ, López-Gallardo E, Montoya J, Ruiz-Pesini E. Martínez-Romero Í, et al. Among authors: emperador s. Clin Exp Ophthalmol. 2014 Dec;42(9):856-64. doi: 10.1111/ceo.12355. Epub 2014 May 30. Clin Exp Ophthalmol. 2014. PMID: 24800637
Mutation loads in different tissues from six pathogenic mtDNA point mutations.
O'Callaghan MM, Emperador S, Pineda M, López-Gallardo E, Montero R, Yubero D, Jou C, Jimenez-Mallebrera C, Nascimento A, Ferrer I, García-Cazorla A, Ruiz-Pesini E, Montoya J, Artuch R. O'Callaghan MM, et al. Among authors: emperador s. Mitochondrion. 2015 May;22:17-22. doi: 10.1016/j.mito.2015.03.001. Epub 2015 Mar 10. Mitochondrion. 2015. PMID: 25765153
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Among authors: emperador s. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Increasing mtDNA levels as therapy for mitochondrial optic neuropathies.
Ruiz-Pesini E, Emperador S, López-Gallardo E, Hernández-Ainsa C, Montoya J. Ruiz-Pesini E, et al. Among authors: emperador s. Drug Discov Today. 2018 Mar;23(3):493-498. doi: 10.1016/j.drudis.2018.01.031. Epub 2018 Jan 11. Drug Discov Today. 2018. PMID: 29337205
44 results