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Page 1
Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: sotoca j. Brain. 2024 Jan 16:awae011. doi: 10.1093/brain/awae011. Online ahead of print. Brain. 2024. PMID: 38227807
Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.
Borrego-Écija S, Turon-Sans J, Ximelis T, Aldecoa I, Molina-Porcel L, Povedano M, Rubio MA, Gámez J, Cano A, Paré-Curell M, Bajo L, Sotoca J, Clarimón J, Balasa M, Antonell A, Lladó A, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Among authors: sotoca j. Brain Pathol. 2021 May;31(3):e12942. doi: 10.1111/bpa.12942. Epub 2021 Feb 12. Brain Pathol. 2021. PMID: 33576076 Free PMC article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: sotoca j. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.
Sánchez-Tejerina D, Restrepo-Vera JL, Rovira-Moreno E, Codina-Sola M, Llauradó A, Sotoca J, Salvado M, Raguer N, García-Arumí E, Juntas-Morales R. Sánchez-Tejerina D, et al. Among authors: sotoca j. Genes (Basel). 2022 Aug 19;13(8):1483. doi: 10.3390/genes13081483. Genes (Basel). 2022. PMID: 36011394 Free PMC article. Review.
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Llauradó A, Gratacòs-Viñola M, Rovira-Moreno E, Codina-Solà M, Salvadó M, Sanchez-Tejerina D, Sotoca J, Raguer N, Garcia-Arumi E, Juntas-Morales R. Llauradó A, et al. Among authors: sotoca j. Muscle Nerve. 2023 Jun;67(6):E22-E24. doi: 10.1002/mus.27788. Epub 2023 Mar 27. Muscle Nerve. 2023. PMID: 36631979 No abstract available.
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Among authors: sotoca j. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Among authors: sotoca j. Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23. Neuromuscul Disord. 2023. PMID: 37119590
49 results