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Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Kameyama S, Mizuguchi T, Doi H, Koyano S, Okubo M, Tada M, Shimizu H, Fukuda H, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Misawa K, Miyatake S, Kanai K, Tanaka F, Matsumoto N. Kameyama S, et al. Genomics. 2022 Sep;114(5):110469. doi: 10.1016/j.ygeno.2022.110469. Epub 2022 Aug 27. Genomics. 2022. PMID: 36041634 Free article.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
Fukuda H, Mizuguchi T, Doi H, Kameyama S, Kunii M, Joki H, Takahashi T, Komiya H, Sasaki M, Miyaji Y, Ohori S, Koshimizu E, Uchiyama Y, Tsuchida N, Fujita A, Hamanaka K, Misawa K, Miyatake S, Tanaka F, Matsumoto N. Fukuda H, et al. Among authors: kameyama s. J Hum Genet. 2023 Oct;68(10):689-697. doi: 10.1038/s10038-023-01170-0. Epub 2023 Jun 12. J Hum Genet. 2023. PMID: 37308565
Advantages of enhanced recovery after surgery program in robot-assisted radical cystectomy.
Nakamura M, Tsuru I, Izumi T, Ono A, Inoue Y, Muraki Y, Yamada Y, Tsuji Y, Watanabe J, Fujimura M, Kihara S, Naito A, Shiratori T, Amakawa R, Inatsu H, Yoshimatsu T, Kashiwagi M, Fukuda A, Morikawa T, Kusakabe M, Suzuki M, Kameyama S, Kume H, Shiga Y. Nakamura M, et al. Among authors: kameyama s. Sci Rep. 2023 Sep 27;13(1):16237. doi: 10.1038/s41598-023-43489-w. Sci Rep. 2023. PMID: 37758782 Free PMC article.
325 results