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

Year Number of Results
2008 3
2009 1
2010 7
2011 3
2012 11
2013 7
2014 6
2015 4
2016 12
2017 17
2018 23
2019 17
2020 22
2021 22
2022 26
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156 results
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Page 1
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. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
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. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. Wiessner M, et al. Among authors: ishiura h. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
JASPAC: Japan Spastic Paraplegia Research Consortium.
Koh K, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. Among authors: ishiura h. Brain Sci. 2018 Aug 13;8(8):153. doi: 10.3390/brainsci8080153. Brain Sci. 2018. PMID: 30104498 Free PMC article. Review.
[Recommendations (Proposal) for promoting research for overcoming neurological diseases 2020].
Mochizuki H, Aoki M, Ikenaka K, Inoue H, Iwatsubo T, Ugawa Y, Okazawa H, Ono K, Onodera O, Kitagawa K, Saito Y, Shimohata T, Takahashi R, Toda T, Nakahara J, Matsumoto R, Mizusawa H, Mitsui J, Murayama S, Katsuno M; Future Vision Committee of Japanese Society of Neurology, Aoki Y, Ishiura H, Izumi Y, Koike H, Shimada H, Takahashi Y, Tokuda T, Nakajima H, Hatano T, Misawa S, Watanabe H. Mochizuki H, et al. Among authors: ishiura h. Rinsho Shinkeigaku. 2021 Nov 24;61(11):709-721. doi: 10.5692/clinicalneurol.cn-001639. Epub 2021 Oct 16. Rinsho Shinkeigaku. 2021. PMID: 34657923 Japanese.
Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome.
Kakumoto T, Kobayashi S, Yuuki H, Kainaga M, Shirota Y, Hamada M, Hashimoto Maeda M, Kubota A, Kawai M, Saito M, Ishiura H, Toda T. Kakumoto T, et al. Among authors: ishiura h. Intern Med. 2021 Nov 1;60(21):3477-3480. doi: 10.2169/internalmedicine.7355-21. Epub 2021 Aug 24. Intern Med. 2021. PMID: 34433712 Free PMC article.
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.
Takeda N, Inuzuka R, Yagi H, Morita H, Ando M, Yamauchi H, Taniguchi Y, Porto KJ, Kanaya T, Ishiura H, Mitsui J, Tsuji S, Toda T, Ono M, Komuro I. Takeda N, et al. Among authors: ishiura h. Circ Genom Precis Med. 2021 Aug;14(4):e003458. doi: 10.1161/CIRCGEN.121.003458. Epub 2021 Jul 30. Circ Genom Precis Med. 2021. PMID: 34325513 No abstract available.
Do eye movements "age" earlier in progeria?
Terao Y, Matsuda SI, Ishiura H, Tsuji S, Yamamoto T, Fukuda H, Ugawa Y. Terao Y, et al. Among authors: ishiura h. Clin Neurophysiol. 2020 Aug;131(8):1835-1836. doi: 10.1016/j.clinph.2020.05.019. Epub 2020 Jun 3. Clin Neurophysiol. 2020. PMID: 32563167 No abstract available.
156 results