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Page 1
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Among authors: rivas infante e. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C. Carbonell-Corvillo P, et al. Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26. Neuromuscul Disord. 2018. PMID: 30166250 Free article.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M. González-Mera L, et al. Among authors: rivas infante e. Neuropathol Appl Neurobiol. 2021 Feb;47(2):283-296. doi: 10.1111/nan.12663. Epub 2020 Sep 28. Neuropathol Appl Neurobiol. 2021. PMID: 32896923
Lessons learned from a sporadic FUSopathy in a young man: a case report.
García-Roldán E, Rivas-Infante E, Medina-Rodríguez M, Arriola-Infante JE, Rodrigo-Herrero S, Paradas C, Rábano-Gutiérrez A, Franco-Macías E. García-Roldán E, et al. Among authors: rivas infante e. BMC Neurol. 2023 Feb 2;23(1):55. doi: 10.1186/s12883-023-03082-0. BMC Neurol. 2023. PMID: 36732691 Free PMC article.
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J. González-Pérez P, et al. J Neurol Sci. 2009 Jan 15;276(1-2):95-8. doi: 10.1016/j.jns.2008.09.009. Epub 2008 Oct 19. J Neurol Sci. 2009. PMID: 18930476
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
Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy.
Gómez-Torres A, Abrante Jiménez A, Rivas Infante E, Menoyo Bueno A, Tirado Zamora I, Esteban Ortega F. Gómez-Torres A, et al. Acta Otorrinolaringol Esp. 2012 Nov-Dec;63(6):465-9. doi: 10.1016/j.otorri.2012.06.003. Epub 2012 Aug 14. Acta Otorrinolaringol Esp. 2012. PMID: 22898142 Free article. English, Spanish.
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease.
Garrido-Maraver J, Cordero MD, Moñino ID, Pereira-Arenas S, Lechuga-Vieco AV, Cotán D, De la Mata M, Oropesa-Ávila M, De Miguel M, Bautista Lorite J, Rivas Infante E, Alvarez-Dolado M, Navas P, Jackson S, Francisci S, Sánchez-Alcázar JA. Garrido-Maraver J, et al. Br J Pharmacol. 2012 Nov;167(6):1311-28. doi: 10.1111/j.1476-5381.2012.02086.x. Br J Pharmacol. 2012. PMID: 22747838 Free PMC article.
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice.
López-Escobar B, Fernández-Torres R, Vargas-López V, Villar-Navarro M, Rybkina T, Rivas-Infante E, Hernández-Viñas A, Álvarez Del Vayo C, Caro-Vega J, Sánchez-Alcázar JA, González-Meneses A, Carrión MÁ, Ybot-González P. López-Escobar B, et al. Among authors: rivas infante e. Sci Rep. 2020 May 6;10(1):7615. doi: 10.1038/s41598-020-64626-9. Sci Rep. 2020. PMID: 32376856 Free PMC article.
24 results