2022-11-17

学会発表

Nishino I: Inherited myopathy with abnormal protein aggregation. The 9th Scientific Annual Meeting of Thai Neuromuscular and Electrodiagnostic Medicine Society (Neurological Institute of Thailand), Bangkok, Thailand, 11.17, 2022 (11.17-11.18)

2022-11-03

学会発表

斎藤良彦，中村公俊，福田冬季子，杉江秀夫，林晋一郎，野口 悟，西野一三：本邦における骨格筋切片を用いたPompe病スクリーニング．第40回日本神経治療学会学術集会（ホテルハマツ），郡山市，11.3, 2022 (11.2-11.4) Oral

2022-11-02

学会発表

Nishino I: Pathological features of autoimmune myositis. WMS 2022 Pre-Congress Teaching Course　(Halifax Convention Centre), Halifax, Canada, 10.10, 2022 (10.9-10.11)

2022-11-01

原著

Ohsawa Y, Ohtsubo H, Saito Y, Nishimatsu SI, Hagiwara H, Murakami T, Nishino I, Sunada Y: Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS. Biochem Biophys Res Commun. 628:84-90. Nov, 2022 doi: 10.1016/j.bbrc.2022.08.066. PMID: 36084555
 

2022-11-01

原著

Tsuboi Y, Oyama K, Kobirumaki-Shimozawa F, Murayama T, Kurebayashi N, Tachibana T, Manome Y, Kikuchi E, Noguchi S, Inoue T, Inoue YU, Nishino I, Mori S, Ishida R, Kagechika H, Suzuki M, Fukuda N, Yamazawa T: Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes. J Gen Physiol. 154(11):e202213136. Nov, 2022

2022-11-01

原著

Saito Y, Baba S, Komaki H, Nishino I: A 7-year-old female with hypotonia and scoliosis. Brain Pathol. 32(6):e13076. Nov, 2022
doi: 10.1111/bpa.13076. PMID: 35665974
 

2022-11-01

原著

Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I: RILPL1-related OPDM is absent in a Japanese cohort. Am J Hum Genet. 109(11):2088-2089. Nov, 2022 doi: 10.1016/j.ajhg.2022.10.005. PMID: 36332612
 

2022-11-01

原著

Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I: Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing. J Transl Med. 20(1):517. Nov, 2022 doi: 10.1186/s12967-022-03743-7. PMID: 36348371
 

2022-11-01

原著

Sakai K, Hayashi K, Saito Y, Kanemoto M, Nishino I, Yamada M, Ono K: Late-onset centronuclear myopathy caused by a heterozygous variant of DNM2 (c.1852G>C, p.A618P). Neurol Clin Neurosci. 10(6):315-317. Nov, 2022 doi: 10.1111/ncn3.1266

2022-10-12

学会発表

Saito Y, Hayashi S, Noguchi S, Nishino I: Innervation defect: new pathomechanism of centronuclear myopathy? 27th International Congress of the World Muscle Society (Halifax Convention Centre), Halifax, Canada, 10.12, 2022 (10.11-10.15) Poster