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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 4
2004 2
2005 3
2006 8
2007 3
2008 8
2009 11
2010 11
2011 9
2012 6
2013 6
2014 8
2015 7
2016 9
2017 3
2018 11
2019 14
2020 8
2021 7
2022 8
2023 3
2024 2

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129 results

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Page 1
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J, Ruiz-Pesini E. Emperador S, et al. Among authors: ruiz pesini e. Orphanet J Rare Dis. 2024 Apr 6;19(1):148. doi: 10.1186/s13023-024-03165-2. Orphanet J Rare Dis. 2024. PMID: 38582886 Free PMC article.
"ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane".
Gaudó P, de Tomás-Mateo E, Garrido-Pérez N, Santana A, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy P. Gaudó P, et al. Among authors: ruiz pesini e. Free Radic Biol Med. 2024 Feb 1;211:114-126. doi: 10.1016/j.freeradbiomed.2023.12.006. Epub 2023 Dec 12. Free Radic Biol Med. 2024. PMID: 38092275 Free article.
Developmental origins of Parkinson disease: Improving the rodent models.
Jiménez-Salvador I, Meade P, Iglesias E, Bayona-Bafaluy P, Ruiz-Pesini E. Jiménez-Salvador I, et al. Among authors: ruiz pesini e. Ageing Res Rev. 2023 Apr;86:101880. doi: 10.1016/j.arr.2023.101880. Epub 2023 Feb 10. Ageing Res Rev. 2023. PMID: 36773760 Free article. Review.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Among authors: ruiz pesini e. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
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: ruiz pesini e. 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.
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Bujan N, Morén C, García-García FJ, Blázquez A, Carnicer C, Cortés AB, González C, López-Gallardo E, Lozano E, Moliner S, Gort L, Tobías E, Delmiro A, Martin MÁ, Fernández-Moreno MÁ, Ruiz-Pesini E, Garcia-Arumí E, Rodríguez-Aguilera JC, Garrabou G. Bujan N, et al. Among authors: ruiz pesini e. Antioxidants (Basel). 2022 Apr 8;11(4):741. doi: 10.3390/antiox11040741. Antioxidants (Basel). 2022. PMID: 35453428 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. Among authors: ruiz pesini e. 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.
129 results