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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. Among authors: sakiyama y. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
[Neuropathological diagnosis of prion disease].
Murayama S, Saito Y, Hatsuta H, Sakiyama Y. Murayama S, et al. Among authors: sakiyama y. Nihon Rinsho. 2007 Aug;65(8):1401-6. Nihon Rinsho. 2007. PMID: 17695276 Review. Japanese.
Lewy body pathology involves cutaneous nerves.
Ikemura M, Saito Y, Sengoku R, Sakiyama Y, Hatsuta H, Kanemaru K, Sawabe M, Arai T, Ito G, Iwatsubo T, Fukayama M, Murayama S. Ikemura M, et al. Among authors: sakiyama y. J Neuropathol Exp Neurol. 2008 Oct;67(10):945-53. doi: 10.1097/NEN.0b013e318186de48. J Neuropathol Exp Neurol. 2008. PMID: 18800013
Imaging-pathologic correlation in corticobasal degeneration.
Tokumaru AM, Saito Y, Murayama S, Kazutomi K, Sakiyama Y, Toyoda M, Yamakawa M, Terada H. Tokumaru AM, et al. Among authors: sakiyama y. AJNR Am J Neuroradiol. 2009 Nov;30(10):1884-92. doi: 10.3174/ajnr.A1721. Epub 2009 Oct 15. AJNR Am J Neuroradiol. 2009. PMID: 19833793 Free PMC article.
[Autopsy case of SCA2 with Parkinsonian phenotype].
Yomono HS, Kurisaki H, Hebisawa A, Sakiyama Y, Saito Y, Murayama S. Yomono HS, et al. Among authors: sakiyama y. Rinsho Shinkeigaku. 2010 Mar;50(3):156-62. doi: 10.5692/clinicalneurol.50.156. Rinsho Shinkeigaku. 2010. PMID: 20235484 Japanese.
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: sakiyama y. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy.
Kubota A, Shimizu J, Unuma A, Maeda M, Shirota Y, Kadoya M, Uchio N, Sakiyama Y, Arai N, Shiio Y, Uesaka Y, Hashida H, Iwata NK, Goto J, Nakashima R, Mimori T, Toda T. Kubota A, et al. Among authors: sakiyama y. Neuromuscul Disord. 2022 Jan;32(1):25-32. doi: 10.1016/j.nmd.2021.10.007. Epub 2021 Oct 28. Neuromuscul Disord. 2022. PMID: 34916121
264 results