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846 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: kubota a. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Expanded clinical spectrum of oculopharyngodistal myopathy type 1.
Shimizu T, Ishiura H, Hara M, Shibata S, Unuma A, Kubota A, Sakuishi K, Inoue K, Goto J, Takahashi Y, Shirota Y, Hamada M, Shimizu J, Tsuji S, Toda T. Shimizu T, et al. Among authors: kubota a. Muscle Nerve. 2022 Dec;66(6):679-685. doi: 10.1002/mus.27717. Epub 2022 Sep 27. Muscle Nerve. 2022. PMID: 36052448
Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.
Kurihara M, Sugiyama Y, Tanaka M, Sato K, Mitsutake A, Ishiura H, Kubota A, Sakuishi K, Hayashi T, Iwata A, Shimizu J, Murayama K, Tsuji S, Toda T. Kurihara M, et al. Among authors: kubota a. Intern Med. 2022 Jul 1;61(13):1939-1946. doi: 10.2169/internalmedicine.8629-21. Epub 2021 Nov 27. Intern Med. 2022. PMID: 34840233 Free PMC article.
Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology.
Ikenaga C, Kubota A, Kadoya M, Taira K, Uchio N, Hida A, Maeda MH, Nagashima Y, Ishiura H, Kaida K, Goto J, Tsuji S, Shimizu J. Ikenaga C, et al. Among authors: kubota a. Neurology. 2017 Sep 5;89(10):1060-1068. doi: 10.1212/WNL.0000000000004333. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794251
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: kubota a. 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.
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S. Matsukawa T, et al. Among authors: kubota a. Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484434 No abstract available.
846 results