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Page 1
Renal pathology in children with mitochondrial diseases.
Martín-Hernández E, García-Silva MT, Vara J, Campos Y, Cabello A, Muley R, Del Hoyo P, Martín MA, Arenas J. Martín-Hernández E, et al. Pediatr Nephrol. 2005 Sep;20(9):1299-305. doi: 10.1007/s00467-005-1948-z. Epub 2005 Jun 24. Pediatr Nephrol. 2005. PMID: 15977024
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
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ, García-Silva MT, Barcia G, Delmiro A, Rodríguez-García ME, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F. Martín MÁ, et al. Clin Genet. 2017 Jan;91(1):46-53. doi: 10.1111/cge.12815. Epub 2016 Jul 4. Clin Genet. 2017. PMID: 27256614
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Rivera H, Hernández-Laín A, Coca-Robinot D, Fernández-Toral J, Arenas J, Martín MA, Martínez-Azorín F. Martín-Hernández E, et al. Pediatr Dev Pathol. 2017 Sep-Oct;20(5):416-420. doi: 10.1177/1093526616686439. Epub 2017 Jan 25. Pediatr Dev Pathol. 2017. PMID: 28812460
Understanding mitochondrial diseases.
García-Silva MT, Martín MA, Morán M. García-Silva MT, et al. Clin Nutr. 2017 Jun;36(3):902. doi: 10.1016/j.clnu.2017.03.013. Epub 2017 Mar 16. Clin Nutr. 2017. PMID: 28343800 No abstract available.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F. Delmiro A, et al. Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24105702
78 results