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Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.
Carreño-Gago L, Gamez J, Cámara Y, Alvarez de la Campa E, Aller-Alvarez JS, Moncho D, Salvado M, Galan A, de la Cruz X, Pinós T, García-Arumí E. Carreño-Gago L, et al. Among authors: camara y. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27613247 Free article.
Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.
Pinós T, Melià MJ, Ortiz N, Martinez-Vea A, Raventós-Estellé A, Gallardo E, Hernández-Losa J, Cámara Y, Andreu AL, García-Arumí E. Pinós T, et al. Among authors: camara y. Neuromuscul Disord. 2013 Apr;23(4):330-6. doi: 10.1016/j.nmd.2013.01.001. Epub 2013 Jan 31. Neuromuscul Disord. 2013. PMID: 23375258
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y. Blázquez-Bermejo C, et al. Among authors: camara y. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931
A., Dominguez-Gonzalez, C., de la Cruz, X., Lombes, A., Garcia-Arumi, E., Marti, R., Camara, Y. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts....
A., Dominguez-Gonzalez, C., de la Cruz, X., Lombes, A., Garcia-Arumi, E., Marti, R., Camara, Y. Increased dNTP pools rescue mt …
Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R. Ramón J, et al. Among authors: camara y. Int J Mol Sci. 2021 Jun 16;22(12):6447. doi: 10.3390/ijms22126447. Int J Mol Sci. 2021. PMID: 34208592 Free PMC article. Review.
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Cámara Y, et al. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL. Nogales-Gadea G, et al. Among authors: camara y. PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9. PLoS One. 2012. PMID: 22347505 Free PMC article.
The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts.
Pinós T, Fuku N, Cámara Y, Arai Y, Abe Y, Rodríguez-Romo G, Garatachea N, Santos-Lozano A, Miro-Casas E, Ruiz-Meana M, Otaegui I, Murakami H, Miyachi M, Garcia-Dorado D, Hinohara K, Andreu AL, Kimura A, Hirose N, Lucia A. Pinós T, et al. Among authors: camara y. Age (Dordr). 2014 Apr;36(2):933-43. doi: 10.1007/s11357-013-9593-0. Epub 2013 Oct 28. Age (Dordr). 2014. PMID: 24163049 Free PMC article.
Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin.
Blasco N, Cámara Y, Núñez E, Beà A, Barés G, Forné C, Ruíz-Meana M, Girón C, Barba I, García-Arumí E, García-Dorado D, Vázquez J, Martí R, Llovera M, Sanchis D. Blasco N, et al. Among authors: camara y. Redox Biol. 2018 Jun;16:146-156. doi: 10.1016/j.redox.2018.02.021. Epub 2018 Mar 1. Redox Biol. 2018. PMID: 29502044 Free PMC article.
64 results