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508 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: yamasaki r. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
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: yamasaki r. 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.
IgG4 anti-neurofascin155 antibodies in chronic inflammatory demyelinating polyradiculoneuropathy: Clinical significance and diagnostic utility of a conventional assay.
Kadoya M, Kaida K, Koike H, Takazaki H, Ogata H, Moriguchi K, Shimizu J, Nagata E, Takizawa S, Chiba A, Yamasaki R, Kira JI, Sobue G, Ikewaki K. Kadoya M, et al. Among authors: yamasaki r. J Neuroimmunol. 2016 Dec 15;301:16-22. doi: 10.1016/j.jneuroim.2016.10.013. Epub 2016 Nov 9. J Neuroimmunol. 2016. PMID: 27852440
Paranodal dissection in chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 and anti-contactin-1 antibodies.
Koike H, Kadoya M, Kaida KI, Ikeda S, Kawagashira Y, Iijima M, Kato D, Ogata H, Yamasaki R, Matsukawa N, Kira JI, Katsuno M, Sobue G. Koike H, et al. Among authors: yamasaki r. J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):465-473. doi: 10.1136/jnnp-2016-314895. Epub 2017 Jan 10. J Neurol Neurosurg Psychiatry. 2017. PMID: 28073817
Neuron-specific methylome analysis reveals epigenetic regulation and tau-related dysfunction of BRCA1 in Alzheimer's disease.
Mano T, Nagata K, Nonaka T, Tarutani A, Imamura T, Hashimoto T, Bannai T, Koshi-Mano K, Tsuchida T, Ohtomo R, Takahashi-Fujigasaki J, Yamashita S, Ohyagi Y, Yamasaki R, Tsuji S, Tamaoka A, Ikeuchi T, Saido TC, Iwatsubo T, Ushijima T, Murayama S, Hasegawa M, Iwata A. Mano T, et al. Among authors: yamasaki r. Proc Natl Acad Sci U S A. 2017 Nov 7;114(45):E9645-E9654. doi: 10.1073/pnas.1707151114. Epub 2017 Oct 17. Proc Natl Acad Sci U S A. 2017. PMID: 29042514 Free PMC article.
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.
Urata Y, Nakamura M, Sasaki N, Shiokawa N, Nishida Y, Arai K, Hiwatashi H, Yokoyama I, Narumi S, Terayama Y, Murakami T, Ugawa Y, Sakamoto H, Kaneko S, Nakazawa Y, Yamasaki R, Sadashima S, Sakai T, Arai H, Sano A. Urata Y, et al. Among authors: yamasaki r. Neurol Genet. 2019 Apr 22;5(3):e328. doi: 10.1212/NXG.0000000000000328. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31086825 Free PMC article.
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.
Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, Porto KJL, Naruse H, Tanaka M, Ishiura H, Toda T, Kuzuyama H, Hirano M, Wada I, Ga T, Moritoyo T, Takahashi Y, Mizusawa H, Ishikawa K, Yokota T, Kuwabara S, Sawamoto N, Takahashi R, Abe K, Ishihara T, Onodera O, Matsuse D, Yamasaki R, Kira JI, Katsuno M, Hanajima R, Ogata K, Takashima H, Matsushima M, Yabe I, Sasaki H, Tsuji S. Mitsui J, et al. Among authors: yamasaki r. EClinicalMedicine. 2023 Apr 14;59:101920. doi: 10.1016/j.eclinm.2023.101920. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37256098 Free PMC article.
Safety and efficacy of eculizumab in Guillain-Barré syndrome: a multicentre, double-blind, randomised phase 2 trial.
Misawa S, Kuwabara S, Sato Y, Yamaguchi N, Nagashima K, Katayama K, Sekiguchi Y, Iwai Y, Amino H, Suichi T, Yokota T, Nishida Y, Kanouchi T, Kohara N, Kawamoto M, Ishii J, Kuwahara M, Suzuki H, Hirata K, Kokubun N, Masuda R, Kaneko J, Yabe I, Sasaki H, Kaida KI, Takazaki H, Suzuki N, Suzuki S, Nodera H, Matsui N, Tsuji S, Koike H, Yamasaki R, Kusunoki S; Japanese Eculizumab Trial for GBS (JET-GBS) Study Group. Misawa S, et al. Among authors: yamasaki r. Lancet Neurol. 2018 Jun;17(6):519-529. doi: 10.1016/S1474-4422(18)30114-5. Epub 2018 Apr 21. Lancet Neurol. 2018. PMID: 29685815 Clinical Trial.
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.
Mezaki N, Miura T, Ogaki K, Eriguchi M, Mizuno Y, Komatsu K, Yamazaki H, Suetsugi N, Kawajiri S, Yamasaki R, Ishiguro T, Konno T, Nozaki H, Kasuga K, Okuma Y, Kira JI, Hara H, Onodera O, Ikeuchi T. Mezaki N, et al. Among authors: yamasaki r. Neurol Genet. 2018 Dec 7;4(6):e292. doi: 10.1212/NXG.0000000000000292. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30697589 Free PMC article.
Intrathecal cytokine profile in neuropathy with anti-neurofascin 155 antibody.
Ogata H, Zhang X, Yamasaki R, Fujii T, Machida A, Morimoto N, Kaida K, Masuda T, Ando Y, Kuwahara M, Kusunoki S, Nakamura Y, Matsushita T, Isobe N, Kira JI. Ogata H, et al. Among authors: yamasaki r. Ann Clin Transl Neurol. 2019 Nov;6(11):2304-2316. doi: 10.1002/acn3.50931. Epub 2019 Oct 27. Ann Clin Transl Neurol. 2019. PMID: 31657126 Free PMC article.
508 results