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49 results

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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.
Detecting disability using self-reported and clinical assessments in early-stage relapsing-remitting multiple sclerosis: Looking for a complementary approach.
Sainz de la Maza S, Gómez-Ballesteros R, Borges M, Martín-Martínez J, Sotoca J, Alonso A, Caminero AB, Borrega L, Sánchez-Menoyo JL, Barrero-Hernández FJ, Calles C, Brieva L, Blasco-Quílez MR, Dotor García-Soto J, Del Campo-Amigo M, Navarro-Cantó L, Agüera E, Garcés-Redondo M, Carmona O, Gabaldón-Torres L, Forero L, Hervàs M, Medrano N, Maurino J, Castillo-Triviño T. Sainz de la Maza S, et al. Among authors: sotoca j. Mult Scler J Exp Transl Clin. 2023 May 10;9(2):20552173231169475. doi: 10.1177/20552173231169475. eCollection 2023 Apr-Jun. Mult Scler J Exp Transl Clin. 2023. PMID: 37187856 Free PMC article.
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.
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.
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R. Sánchez-Tejerina D, et al. Among authors: sotoca j. J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28. J Neurol Sci. 2023. PMID: 36753892
49 results