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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: ishigaki k. 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.
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.
Komaki H, Maegaki Y, Matsumura T, Shiraishi K, Awano H, Nakamura A, Kinoshita S, Ogata K, Ishigaki K, Saitoh S, Funato M, Kuru S, Nakayama T, Iwata Y, Yajima H, Takeda S. Komaki H, et al. Among authors: ishigaki k. Ann Clin Transl Neurol. 2020 Feb;7(2):181-190. doi: 10.1002/acn3.50978. Epub 2020 Jan 20. Ann Clin Transl Neurol. 2020. PMID: 31957953 Free PMC article. Clinical Trial.
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: ishigaki k. J Hum Genet. 2021 Apr;66(4):401-407. doi: 10.1038/s10038-020-00853-2. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040083
319 results