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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: corral juan m. 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.
A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.
Delgado-Alvarado M, Matilla-Dueñas A, Altadill-Bermejo A, Setién S, Misiego-Peral M, Sánchez-de la Torre JR, Corral-Juan M, Riancho J. Delgado-Alvarado M, et al. Among authors: corral juan m. Neurol Sci. 2020 Dec;41(12):3779-3781. doi: 10.1007/s10072-020-04718-6. Epub 2020 Sep 21. Neurol Sci. 2020. PMID: 32955639
Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene.
Manrique L, Sánchez-Rodríguez A, Pelayo-Negro AL, Corral-Juan M, Matilla-Dueñas A, Infante J. Manrique L, et al. Among authors: corral juan m. Mov Disord Clin Pract. 2021 Jun 14;8(6):969-971. doi: 10.1002/mdc3.13260. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34405108 Free PMC article. No abstract available.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: corral juan m. J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x. J Transl Med. 2019. PMID: 31455392 Free PMC article.
20 results