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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: kawarai t. JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677. JAMA Neurol. 2014. PMID: 24535567 Free PMC article.
[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. Rinsho Shinkeigaku. 2013;53(6):419-29. doi: 10.5692/clinicalneurol.53.419. Rinsho Shinkeigaku. 2013. PMID: 23782819 Review. Japanese.
Treatment of Isolated Dystonia with Zolpidem.
Miyazaki Y, Koizumi H, Miyamoto R, Kawarai T, Kaji R. Miyazaki Y, et al. Among authors: kawarai t. Mov Disord Clin Pract. 2015 Dec 18;3(3):309-311. doi: 10.1002/mdc3.12280. eCollection 2016 May-Jun. Mov Disord Clin Pract. 2015. PMID: 30713923 Free PMC article. No abstract available.
DYT6 in Japan-genetic screening and clinical characteristics of the patients.
Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R. Miyamoto R, et al. Among authors: kawarai t. Mov Disord. 2014 Feb;29(2):278-80. doi: 10.1002/mds.25745. Epub 2013 Nov 13. Mov Disord. 2014. PMID: 24227593 No abstract available.
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
Kawarai T, Yamasaki K, Mori A, Takamatsu N, Osaki Y, Banzrai C, Miyamoto R, Oki R, Pedace L, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Takashima H, Nishida Y, Izumi Y, Kaji R. Kawarai T, et al. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6. J Neurol Neurosurg Psychiatry. 2016. PMID: 27154191 No abstract available.
[Pathomechanisms of motor neuron death by mutant TFG].
Kawarai T, Morita M, Morigaki R, Fujita K, Nodera H, Izumi Y, Goto S, Nakano I, Kaji R. Kawarai T, et al. Rinsho Shinkeigaku. 2013;23(11):1199. doi: 10.5692/clinicalneurol.53.1199. Rinsho Shinkeigaku. 2013. PMID: 24291928 Japanese.
172 results