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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: hernandez ainsa c. 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
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.
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.
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.