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Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N. Miyatake S, et al. Among authors: misawa k. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190
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: misawa 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.
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R, Nishikawa M, Uchiyama Y, Hamada K, Yamamoto Y, Takeda M, Ochi T, Kishi M, Suzuki T, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Yao T, Ito H, Itakura A, Ogata K, Nagata KI, Matsumoto N. Seyama R, et al. Among authors: misawa k. Sci Rep. 2023 Jun 16;13(1):9789. doi: 10.1038/s41598-023-36381-0. Sci Rep. 2023. PMID: 37328543 Free PMC article.
Epigenetic Modification of Muscarinic Acetylcholine Receptors in Squamous Cell Carcinoma of the Head and Neck.
Sugiyama N, Yamada S, Nakamura Y, Morita K, Kano K, Ishida K, Takeuchi K, Kita JY, Sahara S, Sugawara K, Nagai KI, Matsuda S, Hayashi A, Makoshi Y, Mochizuki D, Nakanishi H, Imai A, Takizawa Y, Misawa Y, Misawa K. Sugiyama N, et al. Among authors: misawa k. Anticancer Res. 2025 Jan;45(1):81-95. doi: 10.21873/anticanres.17395. Anticancer Res. 2025. PMID: 39740827
Long-term quality of life after open and laparoscopic total gastrectomy for stage I gastric cancer: A prospective multi-institutional study (CCOG1504).
Tanaka C, Kanda M, Misawa K, Mochizuki Y, Hattori M, Sueoka S, Watanabe T, Yamada T, Murotani K, Kodera Y. Tanaka C, et al. Among authors: misawa k. Ann Gastroenterol Surg. 2024 Apr 29;8(6):999-1007. doi: 10.1002/ags3.12808. eCollection 2024 Nov. Ann Gastroenterol Surg. 2024. PMID: 39502727 Free PMC article.
Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, Hamada K, Ogata K, Suzuki T, Tsuchida N, Uchiyama Y, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Itakura A, Matsumoto N. Fu L, et al. Among authors: misawa k. J Hum Genet. 2025 Jan;70(1):63-66. doi: 10.1038/s10038-024-01298-7. Epub 2024 Oct 16. J Hum Genet. 2025. PMID: 39414989
547 results