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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
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. Yoshioka W, et al. Among authors: okubo m. Sci Rep. 2022 Dec 16;12(1):21806. doi: 10.1038/s41598-022-26419-0. Sci Rep. 2022. PMID: 36526893 Free PMC article.
Characteristic findings of skeletal muscle MRI in caveolinopathies.
Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K. Ishiguro K, et al. Among authors: okubo m. Neuromuscul Disord. 2018 Oct;28(10):857-862. doi: 10.1016/j.nmd.2018.07.010. Epub 2018 Jul 31. Neuromuscul Disord. 2018. PMID: 30174172
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. Hamanaka K, et al. Among authors: okubo m. Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23. Genet Med. 2019. PMID: 30467404 Free 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: okubo 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.
995 results