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Page 1
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
López-Gallardo E, Cammarata-Scalisi F, Emperador S, Hernández-Ainsa C, Habbane M, Vela-Sebastián A, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E. López-Gallardo E, et al. Among authors: emperador s. Clin Genet. 2020 May;97(5):731-735. doi: 10.1111/cge.13701. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31912494
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
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
Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.
Bayona-Bafaluy MP, Iglesias E, López-Gallardo E, Emperador S, Pacheu-Grau D, Labarta L, Montoya J, Ruiz-Pesini E. Bayona-Bafaluy MP, et al. Among authors: emperador s. Mutat Res Rev Mutat Res. 2020 Oct-Dec;786:108334. doi: 10.1016/j.mrrev.2020.108334. Epub 2020 Aug 25. Mutat Res Rev Mutat Res. 2020. PMID: 33339579 Review.
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Vela-Sebastián A, López-Gallardo E, Emperador S, Hernández-Ainsa C, Pacheu-Grau D, Blanco I, Ros A, Pascual-Benito E, Rabaneda-Lombarte N, Presas-Rodríguez S, García-Robles P, Montoya J, Ruiz-Pesini E. Vela-Sebastián A, et al. Among authors: emperador s. Clin Genet. 2022 Oct;102(4):339-344. doi: 10.1111/cge.14189. Epub 2022 Jul 18. Clin Genet. 2022. PMID: 35808913 Free PMC article.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. del Mar O'Callaghan M, et al. Among authors: emperador s. Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26. Neurogenetics. 2012. PMID: 22638997
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
44 results