2023-02-01

原著

Sasaki R, Yunoki T, Nakano Y, Fukui Y, Takemoto M, Morihara R, Katsuyama E, Nishino I, Yamashita T:A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis．Neuromuscul Disord. 33(2):183-186. Feb, 2023 doi: 10.1016/j.nmd.2022.12.012. PMID: 36652875
 

2023-02-01

原著

Taira K, Mori-Yoshimura M, Yamamoto T, Oya Y, Nishino I, Takahashi Y: Clinical characteristics of dysphagic inclusion body myositis. Neuromuscul Disord. 33(2):133-138. Feb, 2023

2023-02-01

原著

Kurashige T, Morino H, Ueno H, Murao T, Watanabe T, Hinoi T, Nishino I, Torii T, Maruyama H: Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. J Hum Genet. 68(2):91-95. Feb, 2023 doi: 10.1038/s10038-022-01095-0. PMID: 36336708
白血病
 

2023-01-01

原著

Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M, Hayashi S, Komaki H, Mori-Yoshimura M, Oya Y, Takahashi Y, Fukuyama T, Funato M, Hosokawa Y, Kinoshita S, Matsumura T, Nakamura S, Oshiro A, Terashima H, Nagasawa T, Sato T, Shimada Y, Tokita Y, Hagiwara M, Ogata K, Nishino I: RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Hum Genet.142(1):59-71. Jan, 2023 doi: 10.1007/s00439-022-02485-2. PMID: 36048237
 

2023-01-01

原著

Matsui N, Takahara M, Yamazaki H, Takamatsu N, Osaki Y, Kaji R, Nishino I, Yamashita S, Izumi Y: Case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness. Neurol Clin Neurosci. 11(1): 46-48. Jan, 2023 doi:10.1111/ncn3.12678

2022-12-15

学会発表

Nishino I：Large-scale genome sequencing in myology – current status and future.日本人類遺伝学会第67回大会(パシフィコ横浜)，横浜市，12.15, 2022 (12.14-12.17)

2022-12-01

原著

Ogasawara M, Eura N, Iida A, Theerawat K, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I: Intranuclear inclusions in muscle biopsy can diferentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy. Acta Neuropathol Commun. 10(1):176. Dec 2022 doi: 10.1186/s40478-022-01482-w. PMID: 36476314
 

2022-12-01

原著

Mori-Yoshimura M, Yajima H, Oya Y, Mizuno K, Noguchi S, Nishino I, Takahashi Y: Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study. BMJ Neurol Open. 4(2):e000362. Dec, 2022 doi: 10.1136/bmjno-2022-000362. PMID: 36483092
 

2022-12-01

原著

Yoshioka W, Iida A, Sonehara K, Yamamoto K, Oya Y, Mori-Yoshimura M, Kurashige T, Okubo M, Ogawa M, Matsuda F, Higasa K, Hayashi S, Nakamura H, Sekijima M, Okada Y, Noguchi S, Nishino I: Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy. Sci Rep. 12(1):21806. Dec, 2022

2022-11-24

学会発表

Nishino I: Update on inflammatory myopathy. Huashan Neuromuscular Training Conference (Online), Shanghai, China, 11.24, 2022