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963 results

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Page 1
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.
Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sánchez I. Matilla-Dueñas A, et al. Among authors: sanchez i. Cerebellum. 2014 Apr;13(2):269-302. doi: 10.1007/s12311-013-0539-y. Cerebellum. 2014. PMID: 24307138 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 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.
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
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
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