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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: koizumi h. 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.
[New medications for dystonia].
Miyazaki Y, Sato K, Koizumi H, Sako W, Asanuma K, Kaji R. Miyazaki Y, et al. Among authors: koizumi h. Rinsho Shinkeigaku. 2012;52(11):1074-6. doi: 10.5692/clinicalneurol.52.1074. Rinsho Shinkeigaku. 2012. PMID: 23196520 Japanese.
[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: koizumi h. 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: koizumi h. 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.
Edrophonium Challenge Test for Blepharospasm.
Matsumoto S, Murakami N, Koizumi H, Takahashi M, Izumi Y, Kaji R. Matsumoto S, et al. Among authors: koizumi h. Front Neurosci. 2016 Jun 6;10:226. doi: 10.3389/fnins.2016.00226. eCollection 2016. Front Neurosci. 2016. PMID: 27375406 Free PMC article.
982 results