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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: mizoguchi k. 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
A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.
Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, Tanaka T, Tsunoda T, Oshima S, Sano M, Kamei T, Tokuda T, Aoki M, Hasegawa K, Mizoguchi K, Morita M, Takahashi Y, Katsuno M, Atsuta N, Watanabe H, Tanaka F, Kaji R, Nakano I, Kamatani N, Tsuji S, Sobue G, Nakamura Y, Ikegawa S. Iida A, et al. Among authors: mizoguchi k. Hum Mol Genet. 2011 Sep 15;20(18):3684-92. doi: 10.1093/hmg/ddr268. Epub 2011 Jun 10. Hum Mol Genet. 2011. PMID: 21665992
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Ogaki K, et al. Neurobiol Aging. 2012 Oct;33(10):2527.e11-6. doi: 10.1016/j.neurobiolaging.2012.05.011. Epub 2012 Jun 21. Neurobiol Aging. 2012. PMID: 22727276
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: mizoguchi k. 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
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.
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Tomiyama H, et al. Among authors: mizoguchi k. Mov Disord. 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. Mov Disord. 2006. PMID: 16622854
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES.
Indrawati LA, Iida A, Tanaka Y, Honma Y, Mizoguchi K, Yamaguchi T, Ikawa M, Hayashi S, Noguchi S, Nishino I. Indrawati LA, et al. Among authors: mizoguchi k. Neuromuscul Disord. 2020 Aug;30(8):674-679. doi: 10.1016/j.nmd.2020.06.004. Epub 2020 Jun 13. Neuromuscul Disord. 2020. PMID: 32684383
358 results