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Page 1
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. 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.
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: carreno gago l. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.
Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pinós T. Scarpelli M, et al. Among authors: carreno gago l. Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31. Neuromuscul Disord. 2018. PMID: 29174468
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing.
Vázquez-Justes D, Carreño-Gago L, García-Arumi E, Traveset A, Montoya J, Ruiz-Pesini E, López R, Brieva L. Vázquez-Justes D, et al. Among authors: carreno gago l. J Pediatr Genet. 2019 Dec;8(4):231-234. doi: 10.1055/s-0039-1691812. Epub 2019 May 28. J Pediatr Genet. 2019. PMID: 31687263 Free PMC article.
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. Among authors: carreno gago l. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome.
Torrell H, Alonso Y, Garrabou G, Mulet D, Catalán M, Valiente-Pallejà A, Carreño-Gago L, García-Arumí E, Montaña E, Vilella E, Martorell L. Torrell H, et al. Among authors: carreno gago l. Mitochondrion. 2017 May;34:1-8. doi: 10.1016/j.mito.2016.10.007. Epub 2016 Oct 28. Mitochondrion. 2017. PMID: 27989882