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Page 1
A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.
Hernández-Laín A, Guerrero AM, Domínguez-González C, Fernández-Vázquez I, Maya DG, Delmiro A, Arenas J, Morales JR, Blázquez A, Moran M, Martín MA. Hernández-Laín A, et al. J Neurol Sci. 2015 Nov 15;358(1-2):481-3. doi: 10.1016/j.jns.2015.08.1550. Epub 2015 Sep 2. J Neurol Sci. 2015. PMID: 26359855 No abstract available.
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
De Fuenmayor-Fernández De La Hoz CP, Domínguez-González C, Gonzalo-Martínez JF, Esteban-Pérez J, Fernández-Marmiesse A, Arenas J, Martín MA, Hernández-Laín A. De Fuenmayor-Fernández De La Hoz CP, et al. Muscle Nerve. 2016 Oct;54(4):806-8. doi: 10.1002/mus.25183. Epub 2016 Jun 9. Muscle Nerve. 2016. PMID: 27169979 No abstract available.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders.
Fiuza-Luces C, Díez-Bermejo J, Fernández-DE LA Torre M, Rodríguez-Romo G, Sanz-Ayán P, Delmiro A, Munguía-Izquierdo D, Rodríguez-Gómez I, Ara I, Domínguez-González C, Arenas J, Martín MA, Lucia A, Morán M. Fiuza-Luces C, et al. Med Sci Sports Exerc. 2018 Jun;50(6):1142-1151. doi: 10.1249/MSS.0000000000001546. Med Sci Sports Exerc. 2018. PMID: 29315169
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC 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. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C. Domínguez-González C, et al. Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z. Orphanet J Rare Dis. 2019. PMID: 31060578 Free PMC article.
110 results