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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: 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.
[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.
2,088 results