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Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: morimoto m. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H. Miyatake S, et al. Among authors: morimoto m. Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21. Neurology. 2014. PMID: 24850488
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: morimoto m. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: morimoto m. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano SI, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K. Suzuki T, et al. Among authors: morimoto m. Sci Rep. 2022 May 17;12(1):6505. doi: 10.1038/s41598-022-10715-w. Sci Rep. 2022. PMID: 35581205 Free PMC article.
1,703 results