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SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.
Ishihara T, Koyama A, Atsuta N, Tada M, Toyoda S, Kashiwagi K, Hirokawa S, Hatano Y, Yokoseki A, Nakamura R, Tohnai G, Izumi Y, Kaji R, Morita M, Tamura A, Kano O, Aoki M, Kuwabara S, Kakita A, Sobue G, Onodera O. Ishihara T, et al. BMC Med Genomics. 2024 Nov 6;17(1):263. doi: 10.1186/s12920-024-02026-y. BMC Med Genomics. 2024. PMID: 39506867 Free PMC article.
[Clinical and pathological spectrum of TDP-43 associated ALS].
Onodera O, Yokoseki A, Tan CF, Ishihara T, Nishiira Y, Toyoshima Y, Kakita A, Nishizawa M, Takahashi H. Onodera O, et al. Among authors: ishihara t. Rinsho Shinkeigaku. 2010 Nov;50(11):940-2. doi: 10.5692/clinicalneurol.50.940. Rinsho Shinkeigaku. 2010. PMID: 21921519 Review. Japanese.
[FTLD/ALS as TDP-43 proteinopathies].
Ishihara T, Ariizumi Y, Shiga A, Yokoseki A, Sato T, Toyoshima Y, Kakita A, Takahashi H, Nishizawa M, Onodera O. Ishihara T, et al. Rinsho Shinkeigaku. 2010 Nov;50(11):1022-4. doi: 10.5692/clinicalneurol.50.1022. Rinsho Shinkeigaku. 2010. PMID: 21921552 Review. Japanese.
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
Nakamura R, Sone J, Atsuta N, Tohnai G, Watanabe H, Yokoi D, Nakatochi M, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Tsuji S, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Nakamura R, et al. Neurobiol Aging. 2016 Mar;39:219.e1-8. doi: 10.1016/j.neurobiolaging.2015.11.030. Epub 2015 Dec 7. Neurobiol Aging. 2016. PMID: 26742954
Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43.
Koyama A, Sugai A, Kato T, Ishihara T, Shiga A, Toyoshima Y, Koyama M, Konno T, Hirokawa S, Yokoseki A, Nishizawa M, Kakita A, Takahashi H, Onodera O. Koyama A, et al. Among authors: ishihara t. Nucleic Acids Res. 2016 Jul 8;44(12):5820-36. doi: 10.1093/nar/gkw499. Epub 2016 Jun 2. Nucleic Acids Res. 2016. PMID: 27257061 Free PMC article.
2,315 results