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2,155 results

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Page 1
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. Among authors: izumi y. 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.
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. Ishiura H, et al. Among authors: izumi y. Am J Hum Genet. 2012 Aug 10;91(2):320-9. doi: 10.1016/j.ajhg.2012.07.014. Am J Hum Genet. 2012. PMID: 22883144 Free PMC article.
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H. Izumi Y, et al. Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. Epub 2013 Jan 16. Neurology. 2013. PMID: 23325900 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: izumi y. 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: izumi y. Rinsho Shinkeigaku. 2013;53(6):419-29. doi: 10.5692/clinicalneurol.53.419. Rinsho Shinkeigaku. 2013. PMID: 23782819 Review. Japanese.
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: izumi y. 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.
2,155 results