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9,131 results

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A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.
Miyagawa T, Tanaka S, Shimada M, Sakai N, Tanida K, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kanbayashi T, Imanishi A, Ikegami A, Kamei Y, Hida A, Wada Y, Miyamoto M, Takami M, Kondo H, Tamura Y, Taniyama Y, Omata N, Mizuno T, Moriya S, Furuya H, Kato M, Kato K, Ishigooka J, Tsuruta K, Chiba S, Yamada N, Okawa M, Hirata K, Kuroda K, Kume K, Uchimura N, Kitada M, Kodama T, Inoue Y, Nishino S, Mishima K, Tokunaga K, Honda M. Miyagawa T, et al. Among authors: kato m, kato k. NPJ Genom Med. 2022 Apr 12;7(1):29. doi: 10.1038/s41525-022-00298-w. NPJ Genom Med. 2022. PMID: 35414074 Free PMC article.
New susceptibility variants to narcolepsy identified in HLA class II region.
Miyagawa T, Toyoda H, Hirataka A, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Imai M, Fujimura Y, Tamura Y, Ikegami A, Wada Y, Moriya S, Furuya H, Kato M, Omata N, Kojima H, Kashiwase K, Saji H, Khor SS, Yamasaki M, Wada Y, Ishigooka J, Kuroda K, Kume K, Chiba S, Yamada N, Okawa M, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: kato m. Hum Mol Genet. 2015 Feb 1;24(3):891-8. doi: 10.1093/hmg/ddu480. Epub 2014 Sep 25. Hum Mol Genet. 2015. PMID: 25256355
An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population.
Miyagawa T, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Fujimura Y, Tamura Y, Omata N, Masuya Y, Kondo H, Moriya S, Furuya H, Kato M, Kojima H, Kashiwase K, Saji H, Khor SS, Yamasaki M, Ishigooka J, Wada Y, Chiba S, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: kato m. Hum Genome Var. 2015 Sep 17;2:15031. doi: 10.1038/hgv.2015.31. eCollection 2015. Hum Genome Var. 2015. PMID: 27081540 Free PMC article.
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.
Miyagawa T, Khor SS, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Higashiyama Y, Miyake R, Kondo H, Fujimura Y, Tamura Y, Taniyama Y, Omata N, Tanaka Y, Moriya S, Furuya H, Kato M, Kawamura Y, Otowa T, Miyashita A, Kojima H, Saji H, Shimada M, Yamasaki M, Kobayashi T, Misawa R, Shigematsu Y, Kuwano R, Sasaki T, Ishigooka J, Wada Y, Tsuruta K, Chiba S, Tanaka F, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: kato m. J Hum Genet. 2018 Dec;63(12):1259-1267. doi: 10.1038/s10038-018-0518-8. Epub 2018 Sep 28. J Hum Genet. 2018. PMID: 30266950 Clinical Trial.
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Among authors: kato m. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
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: kato 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.
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: kato m. Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10. Epilepsia. 2013. PMID: 23662938 Free article.
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: kato m. Ann Neurol. 2018 Jul;84(1):159-161. doi: 10.1002/ana.25256. Epub 2018 Jul 30. Ann Neurol. 2018. PMID: 29740860 No abstract available.
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S, Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y, Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Abe-Hatano C, et al. Among authors: kato m. Am J Med Genet A. 2021 May;185(5):1468-1480. doi: 10.1002/ajmg.a.62138. Epub 2021 Feb 24. Am J Med Genet A. 2021. PMID: 33624935 Free PMC article.
9,131 results