2022-05-18
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2022-05-18
学会発表
Eura N, Ogasawara M, Hayashi S, Noguchi S, Nishino I: Frequent intra-myonuclear inclusions is a distinctive finding of oculopharyngeal muscular dystrophy. 第63回日本神経学会学術大会（東京国際フォーラム），千代田区，5.18, 2022 Oral
2022-05-18
学会発表
Nagai A, Yaguchi H, Tanaka D, Fujioka Y, Oba Y, Watanabe M, Kondo T, Hatakeyama S, Nishino I, Yabe I: A novel STIM1 variant and the significance of the SAM domain in tubular aggregate myopathy. 第63回日本神経学会学術大会（東京国際フォーラム），千代田区 Oral
Nagai A, Yaguchi H, Tanaka D, Fujioka Y, Oba Y, Watanabe M, Kondo T, Hatakeyama S, Nishino I, Yabe I: A novel STIM1 variant and the significance of the SAM domain in tubular aggregate myopathy. 第63回日本神経学会学術大会（東京国際フォーラム），千代田区 Oral
2022-05-01
総説・著書
勝尾公祐，八木洋輔，吉田康幸，桒井 匠，高木あかり，高野誠一郎，大越忠和，西野一三，市村裕輝，沖山奈緒子：筋線維にミクソウイルス耐性蛋白質 Aの発現を 確認 した皮膚筋炎の 1例．臨床皮膚科．76(6):409-414, May, 2022
2022-05-01
原著
Fujii K, Hirano M, Terayama A, Inada R, Saito Y, Nishino I, Nagai Y: Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy. Neuromuscul Disord. 32(5):436-440. May, 2022
doi: 10.1016/j.nmd.2022.01.009. PMID: 35370044
2022-05-01
原著
Sano Y, Ota S, Oishi M, Honda M, Omoto M, Kawai M, Okubo M, Nishino I, Kanda T: A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin. Intern Med. 61(10):1587-1592. May, 2022
doi: 10.2169/internalmedicine.7733-21. PMID: 34670883
2022-05-01
原著
Kobayashi T, Nakano T, Ogata H, Sato N, Yamaide F, Yamashita Y, Chikaraishi K, Hino M, Nishino I, Ichimura Y, Okiyama N, Hamada H: A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis. Rheumatology (Oxford). 61(6):e143-e145. May, 2022
doi: 10.1093/rheumatology/keab922. PMID: 34897378
2022-04-25
原著
Saito Y, Nakamura K, Fukuda T, Sugie H, Hayashi S, Noguchi S, Nishino I: Muscle biochemical and pathological diagnosis in Pompe disease. J Neurol Neurosurg Psychiatry. 2022 Apr 25:jnnp-2022-329085. [Online ahead of print]
doi: 10.1136/jnnp-2022-329085. PMID: 35470251
2022-04-01
原著
Ogasawara M, Eura N, Nagaoka U, Sato T, Arahata H, Hayashi T, Okamoto T, Takahashi Y, Mori-Yoshimura M, Oya Y, Nakamura A, Shimazaki R, Sano T, Kumutpongpanich T, Minami N, Hayashi S, Noguchi S, Iida A, Takao M, Nishino I: Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy. Neuropathol Appl Neurobiol. 48(3):e12787. Apr, 2022
doi: 10.1111/nan.12787. PMID: 34927285
2022-04-01
