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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: ito 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.
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.
Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H. Kamada M, et al. Among authors: ito h. J Neurol Sci. 2009 Sep 15;284(1-2):69-71. doi: 10.1016/j.jns.2009.04.017. Epub 2009 May 2. J Neurol Sci. 2009. PMID: 19411082 Free article.
Mutations of optineurin in amyotrophic lateral sclerosis.
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H. Maruyama H, et al. Among authors: ito h. Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28. Nature. 2010. PMID: 20428114
Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation.
Ito H, Nakamura M, Komure O, Ayaki T, Wate R, Maruyama H, Nakamura Y, Fujita K, Kaneko S, Okamoto Y, Ihara M, Konishi T, Ogasawara K, Hirano A, Kusaka H, Kaji R, Takahashi R, Kawakami H. Ito H, et al. Acta Neuropathol. 2011 Aug;122(2):223-9. doi: 10.1007/s00401-011-0842-y. Epub 2011 Jun 5. Acta Neuropathol. 2011. PMID: 21644038
The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis.
Imamura K, Izumi Y, Watanabe A, Tsukita K, Woltjen K, Yamamoto T, Hotta A, Kondo T, Kitaoka S, Ohta A, Tanaka A, Watanabe D, Morita M, Takuma H, Tamaoka A, Kunath T, Wray S, Furuya H, Era T, Makioka K, Okamoto K, Fujisawa T, Nishitoh H, Homma K, Ichijo H, Julien JP, Obata N, Hosokawa M, Akiyama H, Kaneko S, Ayaki T, Ito H, Kaji R, Takahashi R, Yamanaka S, Inoue H. Imamura K, et al. Among authors: ito h. Sci Transl Med. 2017 May 24;9(391):eaaf3962. doi: 10.1126/scitranslmed.aaf3962. Sci Transl Med. 2017. PMID: 28539470 Free article.
The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial.
Oki R, Izumi Y, Nodera H, Sato Y, Nokihara H, Kanai K, Sonoo M, Urushitani M, Nishinaka K, Atsuta N, Kohara N, Shimizu T, Kikuchi H, Oda M, Ikeda K, Nagai M, Komai K, Kojima Y, Kuzume D, Isose S, Shimohama S, Abe K, Ito H, Noda K, Ishihara T, Morita M, Shimohata T, Teramukai S, Kagimura T, Noma K, Yanagawa H, Kuwabara S, Kaji R; JETALS. Oki R, et al. Among authors: ito h. JMIR Res Protoc. 2018 Dec 21;7(12):e12046. doi: 10.2196/12046. JMIR Res Protoc. 2018. PMID: 30578206 Free PMC article.
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