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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. Among authors: nishizawa m. 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.
[Gene diagnosis of patients with chorea].
Shimohata T, Onodera O, Honma Y, Hirota K, Nunomura Y, Kimura T, Kawachi I, Sanpei K, Nishizawa M, Tsuji S. Shimohata T, et al. Among authors: nishizawa m. Rinsho Shinkeigaku. 2004 Mar;44(3):149-53. Rinsho Shinkeigaku. 2004. PMID: 15233265 Japanese.
TDP-43 mutation in familial amyotrophic lateral sclerosis.
Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O. Yokoseki A, et al. Among authors: nishizawa m. Ann Neurol. 2008 Apr;63(4):538-42. doi: 10.1002/ana.21392. Ann Neurol. 2008. PMID: 18438952
Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.
Ikeuchi T, Kaneko H, Miyashita A, Nozaki H, Kasuga K, Tsukie T, Tsuchiya M, Imamura T, Ishizu H, Aoki K, Ishikawa A, Onodera O, Kuwano R, Nishizawa M. Ikeuchi T, et al. Among authors: nishizawa m. Dement Geriatr Cogn Disord. 2008;26(1):43-9. doi: 10.1159/000141483. Epub 2008 Jun 28. Dement Geriatr Cogn Disord. 2008. PMID: 18587238
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S. Takahashi Y, et al. Among authors: nishizawa m. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346
1,169 results