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Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.
Miyamoto R, Goto S, Sako W, Miyashiro A, Kim I, Escande F, Harada M, Morigaki R, Asanuma K, Mizobuchi Y, Nagahiro S, Izumi Y, Kaji R. Miyamoto R, et al. Mov Disord. 2012 Aug;27(9):1198-9. doi: 10.1002/mds.25081. Epub 2012 Jun 21. Mov Disord. 2012. PMID: 22730017 No abstract available.
Oromandibular dystonia associated with SCA36.
Miyashiro A, Sugihara K, Kawarai T, Miyamoto R, Izumi Y, Morino H, Maruyama H, Orlacchio A, Kawakami H, Kaji R. Miyashiro A, et al. Among authors: miyamoto r. Mov Disord. 2013 Apr;28(4):558-9. doi: 10.1002/mds.25304. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23390045 No abstract available.
[Dystonia genes and elucidation of their roles in dystonia pathogenesis].
Kawarai T, Miyamoto R, Murakami N, Miyazaki Y, Koizumi H, Sako W, Mukai Y, Sato K, Matsumoto S, Sakamoto T, Izumi Y, Kaji R. Kawarai T, et al. Among authors: miyamoto r. Rinsho Shinkeigaku. 2013;53(6):419-29. doi: 10.5692/clinicalneurol.53.419. Rinsho Shinkeigaku. 2013. PMID: 23782819 Review. Japanese.
Mutations in GNAL: a novel cause of craniocervical dystonia.
Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A. Kumar KR, et al. Among authors: miyamoto r. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
483 results