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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: 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
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
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
[Perspective on transition from pediatric to adult health care for patients with neurological disease: current situation and issues].
Ogata K, Mochizuki Y, Saito T, Sakiyama Y, Mizuguchi M, Kubota M, Mimaki M, Okuno T, Ikeda A, Komori T, Yoneyama A, Mochizuki H; Special Committee on Measures for Transition from Pediatric to Adult Health Care, the Japanese Society of Neurology. Ogata K, et al. Among authors: sakiyama y. Rinsho Shinkeigaku. 2022 Apr 27;62(4):261-266. doi: 10.5692/clinicalneurol.cn-001676. Epub 2022 Mar 29. Rinsho Shinkeigaku. 2022. PMID: 35354722 Japanese.
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.
Anti-TIF1-γ antibody and cancer-associated myositis: A clinicohistopathologic study.
Hida A, Yamashita T, Hosono Y, Inoue M, Kaida K, Kadoya M, Miwa Y, Yajima N, Maezawa R, Arai S, Kurasawa K, Ito K, Shimada H, Iwanami T, Sonoo M, Hatanaka Y, Murayama S, Uchibori A, Chiba A, Aizawa H, Momoo T, Nakae Y, Sakurai Y, Shiio Y, Hashida H, Yoshizawa T, Sakiyama Y, Oda A, Inoue K, Takeuchi S, Iwata NK, Date H, Masuda N, Mikata T, Motoyoshi Y, Uesaka Y, Maeda MH, Nakashima R, Tsuji S, Kwak S, Mimori T, Shimizu J. Hida A, et al. Among authors: sakiyama y. Neurology. 2016 Jul 19;87(3):299-308. doi: 10.1212/WNL.0000000000002863. Epub 2016 Jun 24. Neurology. 2016. PMID: 27343066
[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
262 results