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

Year Number of Results
1990 1
2003 2
2006 5
2007 1
2008 2
2009 4
2010 6
2011 7
2012 6
2013 3
2014 4
2015 5
2016 5
2017 2
2018 5
2019 2
2020 3
2021 1
2022 8
2024 1

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69 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: lopez gallardo 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.
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: lopez gallardo 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.
Palmitic acid control of ciliogenesis modulates insulin signaling in hypothalamic neurons through an autophagy-dependent mechanism.
Ávalos Y, Hernández-Cáceres MP, Lagos P, Pinto-Nuñez D, Rivera P, Burgos P, Díaz-Castro F, Joy-Immediato M, Venegas-Zamora L, Lopez-Gallardo E, Kretschmar C, Batista-Gonzalez A, Cifuentes-Araneda F, Toledo-Valenzuela L, Rodriguez-Peña M, Espinoza-Caicedo J, Perez-Leighton C, Bertocchi C, Cerda M, Troncoso R, Parra V, Budini M, Burgos PV, Criollo A, Morselli E. Ávalos Y, et al. Among authors: lopez gallardo e. Cell Death Dis. 2022 Jul 28;13(7):659. doi: 10.1038/s41419-022-05109-9. Cell Death Dis. 2022. PMID: 35902579 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: lopez gallardo 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.
Mitochondrial E3 ubiquitin ligase 1 (MUL1) as a novel therapeutic target for diseases associated with mitochondrial dysfunction.
Calle X, Garrido-Moreno V, Lopez-Gallardo E, Norambuena-Soto I, Martínez D, Peñaloza-Otárola A, Troncossi A, Guerrero-Moncayo A, Ortega A, Maracaja-Coutinho V, Parra V, Chiong M, Lavandero S. Calle X, et al. Among authors: lopez gallardo e. IUBMB Life. 2022 Sep;74(9):850-865. doi: 10.1002/iub.2657. Epub 2022 Jun 21. IUBMB Life. 2022. PMID: 35638168 Free article. Review.
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: lopez gallardo 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: lopez gallardo 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.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
69 results