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Page 1
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: kawata a. Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28. Nature. 2010. PMID: 20428114
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS; Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. Takahashi Y, et al. Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119685 Free PMC article.
Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
Oki R, Izumi Y, Fujita K, Miyamoto R, Nodera H, Sato Y, Sakaguchi S, Nokihara H, Kanai K, Tsunemi T, Hattori N, Hatanaka Y, Sonoo M, Atsuta N, Sobue G, Shimizu T, Shibuya K, Ikeda K, Kano O, Nishinaka K, Kojima Y, Oda M, Komai K, Kikuchi H, Kohara N, Urushitani M, Nakayama Y, Ito H, Nagai M, Nishiyama K, Kuzume D, Shimohama S, Shimohata T, Abe K, Ishihara T, Onodera O, Isose S, Araki N, Morita M, Noda K, Toda T, Maruyama H, Furuya H, Teramukai S, Kagimura T, Noma K, Yanagawa H, Kuwabara S, Kaji R; Japan Early-Stage Trial of Ultrahigh-Dose Methylcobalamin for ALS (JETALS) Collaborators. Oki R, et al. JAMA Neurol. 2022 Jun 1;79(6):575-583. doi: 10.1001/jamaneurol.2022.0901. JAMA Neurol. 2022. PMID: 35532908 Free PMC article. Clinical Trial.
Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients.
Nakamura R, Atsuta N, Watanabe H, Hirakawa A, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Izumi Y, Morita M, Ogaki K, Taniguchi A, Aiba I, Mizoguchi K, Okamoto K, Hasegawa K, Aoki M, Kawata A, Abe K, Oda M, Konagaya M, Imai T, Nakagawa M, Tsuji S, Kaji R, Nakano I, Sobue G. Nakamura R, et al. Among authors: kawata a. J Neurol Neurosurg Psychiatry. 2013 Dec;84(12):1365-71. doi: 10.1136/jnnp-2013-306020. Epub 2013 Aug 9. J Neurol Neurosurg Psychiatry. 2013. PMID: 23933739
A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN.
Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G. Watanabe H, et al. Among authors: kawata a. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):851-8. doi: 10.1136/jnnp-2015-311541. Epub 2016 Jan 8. J Neurol Neurosurg Psychiatry. 2016. PMID: 26746183
Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease.
Ito H, Fujita K, Nakamura M, Wate R, Kaneko S, Sasaki S, Yamane K, Suzuki N, Aoki M, Shibata N, Togashi S, Kawata A, Mochizuki Y, Mizutani T, Maruyama H, Hirano A, Takahashi R, Kawakami H, Kusaka H. Ito H, et al. Among authors: kawata a. Acta Neuropathol. 2011 Apr;121(4):555-7. doi: 10.1007/s00401-011-0809-z. Epub 2011 Feb 17. Acta Neuropathol. 2011. PMID: 21327942 No abstract available.
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai G, Nakamura R, Atsuta N, Nakatochi M, Hayashi N, Ito D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Ishihara T, Kawata A, Yokota T, Hasegawa K, Nagano I, Yabe I, Tanaka F, Kuru S, Hattori N, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Tohnai G, et al. Among authors: kawata a. Neurobiol Aging. 2022 May;113:131-136. doi: 10.1016/j.neurobiolaging.2021.12.002. Epub 2021 Dec 11. Neurobiol Aging. 2022. PMID: 35039179
An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation.
Mochizuki Y, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S. Mochizuki Y, et al. Among authors: kawata a. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):305-8. doi: 10.3109/21678421.2014.881500. Epub 2014 Feb 28. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24575823 No abstract available.
230 results