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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: ishiura h. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. Mitsui J, et al. Among authors: ishiura h. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23038421
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: ishiura h. 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.
Variants associated with Gaucher disease in multiple system atrophy.
Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S. Mitsui J, et al. Among authors: ishiura h. Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28. Ann Clin Transl Neurol. 2015. PMID: 25909086 Free PMC article.
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.
Mano KK, Matsukawa T, Mitsui J, Ishiura H, Tokushige S, Takahashi Y, Sato NS, Nakamoto FK, Ichikawa Y, Nagashima Y, Terao Y, Shimizu J, Hamada M, Uesaka Y, Oyama G, Ogawa G, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Mano KK, et al. Among authors: ishiura h. Neurol Genet. 2016 Jan 7;2(1):e48. doi: 10.1212/NXG.0000000000000048. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066585 Free PMC article.
196 results