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Page 1
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. Among authors: tohnai g. 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.
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. Among authors: tohnai g. 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
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, 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, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Tohnai G, et al. Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11. Neurobiol Aging. 2018. PMID: 29398122
Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Nakamura R, Tohnai G, Atsuta N, Nakatochi M, Hayashi N, Watanabe H, Yokoi D, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Hattori N, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Nakamura R, et al. Among authors: tohnai g. Neurobiol Aging. 2021 Jan;97:147.e11-147.e17. doi: 10.1016/j.neurobiolaging.2020.07.010. Epub 2020 Jul 17. Neurobiol Aging. 2021. PMID: 32888732
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K, Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y, Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S, Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M, Sobue G. Nakamura R, et al. Among authors: tohnai g. Commun Biol. 2020 Sep 23;3(1):526. doi: 10.1038/s42003-020-01251-2. Commun Biol. 2020. PMID: 32968195 Free PMC article.
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai G, Nakamura R, Atsuta N, Nakatochi M, Hayashi N, Ito D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Ishihara T, Kawata A, Yokota T, Hasegawa K, Nagano I, Yabe I, Tanaka F, Kuru S, Hattori N, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Tohnai G, et al. Neurobiol Aging. 2022 May;113:131-136. doi: 10.1016/j.neurobiolaging.2021.12.002. Epub 2021 Dec 11. Neurobiol Aging. 2022. PMID: 35039179
The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.
Yokoi S, Ito T, Sahashi K, Nakatochi M, Nakamura R, Tohnai G, Fujioka Y, Ishigaki S, Udagawa T, Izumi Y, Morita M, Kano O, Oda M, Sone T, Okano H, Atsuta N, Katsuno M, Okada Y, Sobue G. Yokoi S, et al. Among authors: tohnai g. J Neurosci. 2022 Nov 23;42(47):8881-8896. doi: 10.1523/JNEUROSCI.0455-22.2022. Epub 2022 Oct 19. J Neurosci. 2022. PMID: 36261283 Free PMC article.
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Nakamura R, Tohnai G, Nakatochi M, Atsuta N, Watanabe H, Ito D, Katsuno M, Hirakawa A, Izumi Y, Morita M, Hirayama T, Kano O, Kanai K, Hattori N, Taniguchi A, Suzuki N, Aoki M, Iwata I, Yabe I, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Abe K, Mizoguchi K, Shimizu T, Ikeda Y, Yokota T, Hasegawa K, Tanaka F, Nakashima K, Kaji R, Niwa JI, Doyu M, Terao C, Ikegawa S, Fujimori K, Nakamura S, Ozawa F, Morimoto S, Onodera K, Ito T, Okada Y, Okano H, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group. Nakamura R, et al. Among authors: tohnai g. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):816-824. doi: 10.1136/jnnp-2022-330851. Epub 2023 May 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37142397
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A, Meng H, Taniguchi D, Mio M, Funayama M, Nishioka K, Yoshida M, Li Y, Yoshino H, Inoshita T, Shiba-Fukushima K, Okubo Y, Sakurai T, Amo T, Aiba I, Saito Y, Saito Y, Murayama S, Atsuta N, Nakamura R, Tohnai G, Izumi Y, Morita M, Tamura A, Kano O, Oda M, Kuwabara S, Yamashita T, Sone J, Kaji R, Sobue G, Imai Y, Hattori N. Ikeda A, et al. Among authors: tohnai g. PNAS Nexus. 2024 Jul 30;3(8):pgae319. doi: 10.1093/pnasnexus/pgae319. eCollection 2024 Aug. PNAS Nexus. 2024. PMID: 39131911 Free PMC article.
26 results