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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Among authors: emperador s. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.
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 …
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
A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.
Panadés-de Oliveira L, Montoya J, Emperador S, Ruiz-Pesini E, Jericó I, Arenas J, Hernández-Lain A, Blázquez A, Martín MÁ, Domínguez-González C. Panadés-de Oliveira L, et al. Among authors: emperador s. Mitochondrion. 2020 Jan;50:14-18. doi: 10.1016/j.mito.2019.10.001. Epub 2019 Oct 19. Mitochondrion. 2020. PMID: 31639449
Infectious stress triggers a POLG-related mitochondrial disease.
Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero D, García-Cazorla A, Artuch R, Montoya J, Bayona-Bafaluy MP. Gaudó P, et al. Among authors: emperador s. Neurogenetics. 2020 Jan;21(1):19-27. doi: 10.1007/s10048-019-00593-2. Epub 2019 Oct 26. Neurogenetics. 2020. PMID: 31655921
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
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.
Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch R, Montoya J, Ruiz-Pesini E, Emperador S. Hernández-Ainsa C, et al. Among authors: emperador s. Dis Model Mech. 2022 Mar 1;15(3):dmm049083. doi: 10.1242/dmm.049083. Epub 2022 Mar 1. Dis Model Mech. 2022. PMID: 35191981 Free PMC article.
44 results