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RILPL1-related OPDM is absent in a Japanese cohort.
Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I. Eura N, et al. Among authors: hayashi s. Am J Hum Genet. 2022 Nov 3;109(11):2088-2089. doi: 10.1016/j.ajhg.2022.10.005. Am J Hum Genet. 2022. PMID: 36332612 Free PMC article. No abstract available.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Among authors: hayashi s. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743
Association of Dermatomyositis Sine Dermatitis With Anti-Nuclear Matrix Protein 2 Autoantibodies.
Inoue M, Tanboon J, Hirakawa S, Komaki H, Fukushima T, Awano H, Tajima T, Yamazaki K, Hayashi R, Mori T, Shibuya K, Yamanoi T, Yoshimura H, Ogawa T, Katayama A, Sugai F, Nakayama Y, Yamaguchi S, Hayashi S, Noguchi S, Tachimori H, Okiyama N, Fujimoto M, Nishino I. Inoue M, et al. Among authors: hayashi r, hayashi s. JAMA Neurol. 2020 Jul 1;77(7):872-877. doi: 10.1001/jamaneurol.2020.0673. JAMA Neurol. 2020. PMID: 32310254 Free PMC article.
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Saito Y, Nishikawa A, Iida A, Mori-Yoshimura M, Oya Y, Ishiyama A, Komaki H, Nakamura S, Fujikawa S, Kanda T, Yamadera M, Sakiyama H, Hayashi S, Nonaka I, Noguchi S, Nishino I. Saito Y, et al. Among authors: hayashi s. Neurology. 2020 Sep 15;95(11):e1500-e1511. doi: 10.1212/WNL.0000000000010237. Epub 2020 Jul 9. Neurology. 2020. PMID: 32646962
5,616 results