Not logged in SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells Okubo, Mariko; Ogawa, Megumu; Eura, Nobuyuki; Inoue, Yukiko U.; Dewa, Ken-ichi; Owa, Tomoo; Miyashita, Satoshi; Murakami, Terumi; Nakamura, Hisayoshi; Hayashi, Shinichiro; Nonaka, Ikuya; Ogata, Katsuhisa; Hoshino, Mikio; Inoue, Takayoshi; Nishino, Ichizo; Noguchi, Satoru Share Save
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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, Wakako; Iida, Aritoshi; Sonehara, Kyuto; Yamamoto, Kazuki; Oya, Yasushi; Mori-Yoshimura, Madoka; Kurashige, Takashi; Okubo, Mariko; Ogawa, Megumu; Matsuda, Fumihiko; Higasa, Koichiro; Hayashi, Shinichiro; Nakamura, Harumasa; Sekijima, Masakazu; Okada, Yukinori; Noguchi, Satoru; Nishino, Ichizo Share Save
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy Okubo, Mariko; Noguchi, Satoru; Awaya, Tomonari; Hosokawa, Motoyasu; Tsukui, Nobue; Ogawa, Megumu; Hayashi, Shinichiro; Komaki, Hirofumi; Mori-Yoshimura, Madoka; Oya, Yasushi; Takahashi, Yuji; Fukuyama, Tetsuhiro; Funato, Michinori; Hosokawa, Yousuke; Kinoshita, Satoru; Matsumura, Tsuyoshi; Nakamura, Sadao; Oshiro, Azusa; Terashima, Hiroshi; Nagasawa, Tetsuro; Sato, Tatsuharu; Shimada, Yumi; Tokita, Yasuko; Hagiwara, Masatoshi; Ogata, Katsuhisa; Nishino, Ichizo Share Save
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis Kabeya, Yoshinori; Okubo, Mariko; Yonezawa, Sho; Nakano, Hiroki; Inoue, Michio; Ogasawara, Masashi; Saito, Yoshihiko; Tanboon, Jantima; Indrawati, Luh Ari; Kumutpongpanich, Theerawat; Chen, Yen-Lin; Yoshioka, Wakako; Hayashi, Shinichiro; Iwamori, Toshiya; Takeuchi, Yusuke; Tokumasu, Reitaro; Takano, Atsushi; Matsuda, Fumihiko; Nishino, Ichizo Share Save
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Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families Cotta, Ana; Carvalho, Elmano; da-Cunha-Junior, Antonio Lopes; Navarro, Monica M.; Menezes, Miriam M.; Paim, Julia F.; Valicek, Jaquelin; Lima, Maria Isabel; Velloso-Filho, Roberto; Freire-Lyra, Maria Henriqueta; Takata, Reinaldo I.; Inoue, Michio; Okubo, Mariko; Iida, Aritoshi; Nishino, Ichizo Share Save
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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy Hamanaka, Kohei; Miyatake, Satoko; Koshimizu, Eriko; Tsurusaki, Yoshinori; Mitsuhashi, Satomi; Iwama, Kazuhiro; Alkanaq, Ahmed N.; Fujita, Atsushi; Imagawa, Eri; Uchiyama, Yuri; Tawara, Nozomu; Ando, Yukio; Misumi, Yohei; Okubo, Mariko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Iida, Aritoshi; Nishino, Ichizo; Matsumoto, Naomichi Share Save
Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases Inoue, M.; Tanboon, J.; Okubo, M.; Theerawat, K.; Saito, Y.; Ogasawara, M.; Indrawati, L. A.; Uruha, A.; Okiyama, N.; Fujimoto, M.; Suzuki, S.; Nishino, I. Share Save
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B Okubo, Mariko; Iide, Aritoshi; Hayashi, Shinichiro; Mori-Yoshimura, Madoka; Oya, Yasushi; Watanabe, Akihiro; Arahata, Hajime; El Sherif, Rasha; Noguchi, Satoru; Nishino, Ichizo Share Save
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan Okubo, Mariko; Goto, Kanako; Komaki, Hirofumi; Nakamura, Harumasa; Mori-Yoshimura, Madoka; Hayashi, Yukiko K.; Mitsuhashi, Satomi; Noguchi, Satoru; Kimura, En; Nishino, Ichizo Share Save
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