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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
Clin Genet. 2020 May;97(5):731-735. doi: 10.1111/cge.13701. Epub 2020 Jan 9.
Clin Genet. 2020.
PMID: 31912494
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: hernandez ainsa c.
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
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Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.
Emperador S, López-Gallardo E, Hernández-Ainsa C, Habbane M, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E.
Emperador S, et al. Among authors: hernandez ainsa c.
Orphanet J Rare Dis. 2019 Jun 21;14(1):150. doi: 10.1186/s13023-019-1128-z.
Orphanet J Rare Dis. 2019.
PMID: 31226990
Free PMC article.
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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: hernandez ainsa c.
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.
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The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.
Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch R, López-Gallardo E, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E.
Emperador S, et al. Among authors: hernandez ainsa c.
Front Neurosci. 2018 Feb 9;12:61. doi: 10.3389/fnins.2018.00061. eCollection 2018.
Front Neurosci. 2018.
PMID: 29479304
Free PMC article.
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Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations.
López-Gallardo E, Emperador S, Hernández-Ainsa C, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E.
López-Gallardo E, et al. Among authors: hernandez ainsa c.
Food Chem Toxicol. 2018 Oct;120:89-97. doi: 10.1016/j.fct.2018.07.014. Epub 2018 Jul 6.
Food Chem Toxicol. 2018.
PMID: 29991444
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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.
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.
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Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene.
Hernández-Ainsa C, Nascimento A, Jou C, Artuch R, Montoya J, Ruiz-Pesini E, Emperador S.
Hernández-Ainsa C, et al.
Stem Cell Res. 2022 Mar;59:102632. doi: 10.1016/j.scr.2021.102632. Epub 2021 Dec 20.
Stem Cell Res. 2022.
PMID: 34973561
Free article.
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