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Year Number of Results
1983 1
1986 1
1988 1
2007 1
2008 2
2009 2
2010 1
2011 1
2012 1
2013 6
2014 2
2015 3
2016 2
2017 4
2018 8
2019 12
2020 8
2021 16
2022 15
2023 19
2024 7

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92 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: koshimizu e. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Among authors: koshimizu e. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Case series: Downbeat nystagmus in SCA27B.
Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I. Shirai S, et al. Among authors: koshimizu e. J Neurol Sci. 2023 Nov 15;454:120849. doi: 10.1016/j.jns.2023.120849. Epub 2023 Oct 27. J Neurol Sci. 2023. PMID: 37907039
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: koshimizu e. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392
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: koshimizu e. 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.
Monogenic causes of pigmentary mosaicism.
Saida K, Chong PF, Yamaguchi A, Saito N, Ikehara H, Koshimizu E, Miyata R, Ishiko A, Nakamura K, Ohnishi H, Fujioka K, Sakakibara T, Asada H, Ogawa K, Kudo K, Ohashi E, Kawai M, Abe Y, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Miyake N, Kato M, Kira R, Matsumoto N. Saida K, et al. Among authors: koshimizu e. Hum Genet. 2022 Nov;141(11):1771-1784. doi: 10.1007/s00439-022-02437-w. Epub 2022 May 3. Hum Genet. 2022. PMID: 35503477
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori S, Miyauchi A, Osaka H, Lourenco CM, Arakaki N, Sengoku T, Ogata K, Honjo RS, Kim CA, Mitsuhashi S, Frith MC, Seyama R, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Saito K, Fujita A, Matsumoto N. Ohori S, et al. Among authors: koshimizu e. Life Sci Alliance. 2023 Jun 7;6(8):e202302025. doi: 10.26508/lsa.202302025. Print 2023 Aug. Life Sci Alliance. 2023. PMID: 37286232 Free PMC article.
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Among authors: koshimizu e. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L. Ylikotila P, et al. Among authors: koshimizu e. Eur J Neurol. 2023 May;30(5):1256-1261. doi: 10.1111/ene.15717. Epub 2023 Feb 12. Eur J Neurol. 2023. PMID: 36705320
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Miyatake S, et al. Among authors: koshimizu e. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
92 results