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Year Number of Results
2015 1
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2018 3
2019 3
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2021 7
2022 8
2023 4
2024 0

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Page 1
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I. Nishimori Y, et al. Among authors: okubo m. Neurol Genet. 2021 Dec 17;8(1):e649. doi: 10.1212/NXG.0000000000000649. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34934811 Free PMC article.
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis.
Kabeya Y, Okubo M, Yonezawa S, Nakano H, Inoue M, Ogasawara M, Saito Y, Tanboon J, Indrawati LA, Kumutpongpanich T, Chen YL, Yoshioka W, Hayashi S, Iwamori T, Takeuchi Y, Tokumasu R, Takano A, Matsuda F, Nishino I. Kabeya Y, et al. Among authors: okubo m. Lab Invest. 2022 Mar;102(3):220-226. doi: 10.1038/s41374-021-00647-w. Epub 2021 Oct 2. Lab Invest. 2022. PMID: 34599274 Free article.
Mild form of Danon disease: two case reports.
Yasui T, Nagaoka U, Oya Y, Uruha A, Karashima J, Funai A, Miyamoto K, Matsubara S, Sugaya K, Takahashi K, Inoue M, Okubo M, Sugie K, Nishino I. Yasui T, et al. Among authors: okubo m. Neuromuscul Disord. 2021 Nov;31(11):1207-1211. doi: 10.1016/j.nmd.2021.07.017. Epub 2021 Jul 31. Neuromuscul Disord. 2021. PMID: 34702653
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S, Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y, Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Abe-Hatano C, et al. Among authors: okubo m. Am J Med Genet A. 2021 May;185(5):1468-1480. doi: 10.1002/ajmg.a.62138. Epub 2021 Feb 24. Am J Med Genet A. 2021. PMID: 33624935 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
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.
25 results