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Page 1
Neurophysiological study in cerebrotendinous xanthomatosis.
Pilo B, de Blas G, Sobrido MJ, Navarro C, Grandas F, Barrero FJ, Moya MA, Jimenez-Escrig A. Pilo B, et al. Among authors: sobrido mj. Muscle Nerve. 2011 Apr;43(4):531-6. doi: 10.1002/mus.21905. Muscle Nerve. 2011. PMID: 21404287
Summarizing phenotype evolution patterns from report cases.
Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ. Taboada M, et al. Among authors: sobrido mj. J Med Syst. 2012 Nov;36 Suppl 1:S25-36. doi: 10.1007/s10916-012-9887-2. Epub 2012 Oct 20. J Med Syst. 2012. PMID: 23085966
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4).
Navas-Sánchez FJ, Martín De Blas D, Fernández-Pena A, Alemán-Gómez Y, Lage-Castellanos A, Marcos-Vidal L, Guzmán-De-Villoria JA, Catalina I, Lillo L, Muñoz-Blanco JL, -Ugalde AO, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):25-34. doi: 10.1080/21678421.2021.1962353. Epub 2021 Aug 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34396852
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Navas-Sánchez FJ, Marcos-Vidal L, de Blas DM, Fernández-Pena A, Alemán-Gómez Y, Guzmán-de-Villoria JA, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2022 Jun;269(6):3189-3203. doi: 10.1007/s00415-021-10933-8. Epub 2022 Jan 9. J Neurol. 2022. PMID: 34999956
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2021 Jul;268(7):2429-2440. doi: 10.1007/s00415-020-10387-4. Epub 2021 Jan 28. J Neurol. 2021. PMID: 33507371
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Ramos-Leví AM, Díaz-Pérez A, Sobrido MJ, Piñeiro-Hermida S, Blanco-Arias P, Cabezas-Agrícola JM, Pascual-Pascual SI, Araújo-Vilar D. Ramos-Leví AM, et al. Among authors: sobrido mj. Muscle Nerve. 2012 Dec;46(6):961-4. doi: 10.1002/mus.23466. Muscle Nerve. 2012. PMID: 23225389
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Ortolano S, et al. Among authors: sobrido mj. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Neuromuscul Disord. 2011. PMID: 21288719
Automated semantic annotation of rare disease cases: a case study.
Taboada M, Rodríguez H, Martínez D, Pardo M, Sobrido MJ. Taboada M, et al. Among authors: sobrido mj. Database (Oxford). 2014 Jun 4;2014:bau045. doi: 10.1093/database/bau045. Print 2014. Database (Oxford). 2014. PMID: 24903515 Free PMC article.
103 results