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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 1
2008 1
2009 2
2010 3
2011 3
2012 3
2013 2
2014 3
2015 3
2016 4
2017 4
2018 2
2019 4
2020 3
2021 9
2022 8
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48 results
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Page 1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: nabatame s. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
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: nabatame s. 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
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Among authors: nabatame s. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 Free PMC article.
Ketogenic diet for focal epilepsy with.
Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Kishimoto K, et al. Among authors: nabatame s. Epileptic Disord. 2022 Jun 1;24(4):1-3. doi: 10.1684/epd.2022.1441. Epileptic Disord. 2022. PMID: 35653110 English. No abstract available.
[Introductory remarks].
Nabatame S, Mizushima N. Nabatame S, et al. No To Hattatsu. 2016 May;48(3):174-6. No To Hattatsu. 2016. PMID: 27349078 Japanese. No abstract available.
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. Among authors: nabatame s. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
Current medico-psycho-social conditions of patients with West syndrome in Japan.
Yoshitomi S, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I, Inoue Y. Yoshitomi S, et al. Among authors: nabatame s. Epileptic Disord. 2021 Aug 1;23(4):579-589. doi: 10.1684/epd.2021.1301. Epileptic Disord. 2021. PMID: 34269179 Free article.
Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy.
Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K. Kishimoto K, et al. Among authors: nabatame s. Epileptic Disord. 2022 Aug 1;24(4):726-728. doi: 10.1684/epd.2022.1441. Epileptic Disord. 2022. PMID: 35925050 English. No abstract available.
48 results