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
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