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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. 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. JAMA Neurol. 2020 Jul 1;77(7):872-877. doi: 10.1001/jamaneurol.2020.0673. JAMA Neurol. 2020. PMID: 32310254 Free PMC article.
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Cotta A, Carvalho E, da-Cunha-Junior AL, Navarro MM, Menezes MM, Paim JF, Valicek J, Lima MI, Velloso-Filho R, Freire-Lyra MH, Takata RI, Inoue M, Okubo M, Iida A, Nishino I. Cotta A, et al. Among authors: inoue m. J Neurol Sci. 2020 Aug 15;415:116977. doi: 10.1016/j.jns.2020.116977. Epub 2020 Jun 5. J Neurol Sci. 2020. PMID: 32535249 No abstract available.
Pathologic Features of Anti-Mi-2 Dermatomyositis.
Tanboon J, Inoue M, Hirakawa S, Tachimori H, Hayashi S, Noguchi S, Suzuki S, Okiyama N, Fujimoto M, Nishino I. Tanboon J, et al. Among authors: inoue m. Neurology. 2021 Jan 19;96(3):e448-e459. doi: 10.1212/WNL.0000000000011269. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277422
8,651 results