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

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

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54 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.
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.
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.
Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.
Bayona-Bafaluy MP, Iglesias E, López-Gallardo E, Emperador S, Pacheu-Grau D, Labarta L, Montoya J, Ruiz-Pesini E. Bayona-Bafaluy MP, et al. Among authors: lopez gallardo e. Mutat Res Rev Mutat Res. 2020 Oct-Dec;786:108334. doi: 10.1016/j.mrrev.2020.108334. Epub 2020 Aug 25. Mutat Res Rev Mutat Res. 2020. PMID: 33339579 Review.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.
Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias E, Meade P, Jiménez-Mallebrera C, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E. Garrido-Pérez N, et al. Among authors: lopez gallardo e. Int J Mol Sci. 2020 May 10;21(9):3374. doi: 10.3390/ijms21093374. Int J Mol Sci. 2020. PMID: 32397676 Free PMC article. Review.
54 results