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[Sensory ganglionopathy as a manifestation of celiac disease].
Dominguez-Gonzalez C, Martinez-Salio A, Gordo-Manas R, Ballesteros-Plaza L, Hernandez-Lain A, Hernandez-Gallego J. Dominguez-Gonzalez C, et al. Rev Neurol. 2007 Jul 16-31;45(2):91-4. Rev Neurol. 2007. PMID: 17642049 Free article. Spanish.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.
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
106 results