Not logged in Share Save
Share Save
Share Save
Share Save
Share Save
Branchpoints as potential targets of exon-skipping therapies for genetic disorders Ohara, Hiroaki; Hosokawa, Motoyasu; Awaya, Tomonari; Hagiwara, Atsuko; Kurosawa, Ryo; Sako, Yukiya; Ogawa, Megumu; Ogasawara, Masashi; Noguchi, Satoru; Goto, Yuichi; Takahashi, Ryosuke; Nishino, Ichizo; Hagiwara, Masatoshi Share Save
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis Kume, Kodai; Kurashige, Takashi; Muguruma, Keiko; Morino, Hiroyuki; Tada, Yui; Kikumoto, Mai; Miyamoto, Tatsuo; Akutsu, Silvia Natsuko; Matsuda, Yukiko; Matsuura, Shinya; Nakamori, Masahiro; Nishiyama, Ayumi; Izumi, Rumiko; Niihori, Tetsuya; Ogasawara, Masashi; Eura, Nobuyuki; Kato, Tamaki; Yokomura, Mamoru; Nakayama, Yoshiaki; Ito, Hidefumi; Nakamura, Masataka; Saito, Kayoko; Riku, Yuichi; Iwasaki, Yasushi; Maruyama, Hirofumi; Aoki, Yoko; Nishino, Ichizo; Izumi, Yuishin; Aoki, Masashi; Kawakami, Hideshi Share Save
Share Save
Share Save
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul 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
Share Save
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy Ogasawara, Masashi; Eura, Nobuyuki; Nagaoka, Utako; Sato, Tatsuro; Arahata, Hajime; Hayashi, Tomohiro; Okamoto, Tomoko; Takahashi, Yuji; Mori-Yoshimura, Madoka; Oya, Yasushi; Nakamura, Akinori; Shimazaki, Rui; Sano, Terunori; Kumutpongpanich, Theerawat; Minami, Narihiro; Hayashi, Shinichiro; Noguchi, Satoru; Iida, Aritoshi; Takao, Masaki; Nishino, Ichizo Share Save
A form of muscular dystrophy associated with pathogenic variants in JAG2 (vol 108, pg 840, 2021) Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. Share Save
A form of muscular dystrophy associated with pathogenic variants in JAG2 Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Ounap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu; Milone, Margherita; Nicolau, Stefan; Maroofian, Reza; Houlden, Henry; Hanna, Michael G.; Quinlivan, Ros; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Costagliola, Sabine; Deconinck, Nicolas; Kadhim, Hazim; Macke, Erica; Lanpher, Brendan C.; Klee, Eric W.; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Hahn, Andreas; Schrank, Bertold; Nishino, Ichizo; Ogasawara, Masashi; El Sherif, Rasha; Stojkovic, Tanya; Nelson, Isabelle; Bonne, Gisele; Cohen, Enzo; Boland-Auge, Anne; Deleuze, Jean-Francois; Meng, Yao; Topf, Ana; Vilain, Catheline; Pacak, Christina A.; Rivera-Zengotita, Marie L.; Bonnemann, Carsten G.; Straub, Volker; Handford, Penny A.; Draper, Isabelle; Walter, Glenn A.; Kang, Peter B. Share Save
Share Save
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations Ogasawara, Masashi; Iida, Aritoshi; Kumutpongpanich, Theerawat; Ozaki, Ayami; Oya, Yasushi; Konishi, Hirofumi; Nakamura, Akinori; Abe, Ryuta; Takai, Hiroshi; Hanajima, Ritsuko; Doi, Hiroshi; Tanaka, Fumiaki; Nakamura, Hisayoshi; Nonaka, Ikuya; Wang, Zhaoxia; Hayashi, Shinichiro; Noguchi, Satoru; Nishino, Ichizo Share Save
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy Sugihara, Hidetoshi; Teramoto, Naomi; Nakamura, Katsuyuki; Shiga, Takanori; Shirakawa, Taku; Matsuo, Masafumi; Ogasawara, Masashi; Nishino, Ichizo; Matsuwaki, Takashi; Nishihara, Masugi; Yamanouchi, Keitaro Share Save
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy Deng, Jianwen; Yu, Jiaxi; Li, Pidong; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Guo, Xueyu; Su, Yanan; Liang, Yu; Liang, Fan; Hayashi, Tomohiro; Maeda, Meiko Hashimoto; Sato, Tatsuro; Ura, Shigehisa; Oya, Yasushi; Ogasawara, Masashi; Iida, Aritoshi; Nishino, Ichizo; Zhou, Chang; Yan, Chuanzhu; Yuan, Yun; Hong, Daojun; Wang, Zhaoxia 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
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}