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

Year Number of Results
2002 2
2003 5
2004 9
2005 8
2006 5
2007 5
2008 6
2009 9
2010 1
2011 3
2012 4
2013 10
2014 5
2015 4
2016 12
2017 13
2018 11
2019 9
2020 10
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116 results
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Page 1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Among authors: morishita s. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: morishita s. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.
Yasuda T, Tsuzuki S, Kawazu M, Hayakawa F, Kojima S, Ueno T, Imoto N, Kohsaka S, Kunita A, Doi K, Sakura T, Yujiri T, Kondo E, Fujimaki K, Ueda Y, Aoyama Y, Ohtake S, Takita J, Sai E, Taniwaki M, Kurokawa M, Morishita S, Fukayama M, Kiyoi H, Miyazaki Y, Naoe T, Mano H. Yasuda T, et al. Among authors: morishita s. Nat Genet. 2016 May;48(5):569-74. doi: 10.1038/ng.3535. Epub 2016 Mar 28. Nat Genet. 2016. PMID: 27019113
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: morishita s. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. Brain. 2018. PMID: 29718187 Free PMC article.
Recompleting the Caenorhabditis elegans genome.
Yoshimura J, Ichikawa K, Shoura MJ, Artiles KL, Gabdank I, Wahba L, Smith CL, Edgley ML, Rougvie AE, Fire AZ, Morishita S, Schwarz EM. Yoshimura J, et al. Among authors: morishita s. Genome Res. 2019 Jun;29(6):1009-1022. doi: 10.1101/gr.244830.118. Epub 2019 May 23. Genome Res. 2019. PMID: 31123080 Free PMC article.
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: morishita s. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: morishita s. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S. Kurihara M, et al. Among authors: morishita s. Intern Med. 2020 Mar 15;59(6):839-842. doi: 10.2169/internalmedicine.3661-19. Epub 2019 Dec 6. Intern Med. 2020. PMID: 31813911 Free PMC article.
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Hashiguchi S, et al. Among authors: morishita s. Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20. Neurobiol Dis. 2019. PMID: 31229688
Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut.
Suzuki Y, Nishijima S, Furuta Y, Yoshimura J, Suda W, Oshima K, Hattori M, Morishita S. Suzuki Y, et al. Among authors: morishita s. Microbiome. 2019 Aug 27;7(1):119. doi: 10.1186/s40168-019-0737-z. Microbiome. 2019. PMID: 31455406 Free PMC article.
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