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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
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Akahori M, et al. Among authors: ishiura h. Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009. Am J Hum Genet. 2010. PMID: 20826268 Free PMC article.
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S. Matsukawa T, et al. Among authors: ishiura h. Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484434 No abstract available.
[Japan spastic paraplegia research consortium (JASPAC)].
Takiyama Y, Ishiura H, Shimazaki H, Namekawa M, Takahashi Y, Goto J, Tsuji S, Nishizawa M. Takiyama Y, et al. Among authors: ishiura h. Rinsho Shinkeigaku. 2010 Nov;50(11):931-4. doi: 10.5692/clinicalneurol.50.931. Rinsho Shinkeigaku. 2010. PMID: 21921516 Japanese.
202 results