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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Piñeiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Among authors: sanchez i. Brain Commun. 2022 Feb 10;4(2):fcac030. doi: 10.1093/braincomms/fcac030. eCollection 2022. Brain Commun. 2022. PMID: 35310830 Free PMC article.
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Among authors: sanchez i. Brain. 2018 Jul 1;141(7):1981-1997. doi: 10.1093/brain/awy137. Brain. 2018. PMID: 29939198 Free article.
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. Serrano-Munuera C, et al. Among authors: sanchez i. JAMA Neurol. 2013 Jun;70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. JAMA Neurol. 2013. PMID: 23700170
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I. Matilla-Dueñas A, et al. Among authors: sanchez i. Adv Exp Med Biol. 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. Adv Exp Med Biol. 2017. PMID: 29214587 Review.
POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A. Infante J, et al. Among authors: sanchez i. J Neurol. 2020 Feb;267(2):324-330. doi: 10.1007/s00415-019-09574-9. Epub 2019 Oct 21. J Neurol. 2020. PMID: 31637490
940 results