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SaveShare Save Share Save Substitutions of nucleotides at the 3′ ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies
Lee, Seung-Ah; Ogawa, Megumu; Saito, Yoshihiko; Shimazaki, Rui; Awaya, Tomonari; Hosokawa, Motoyasu; Kurosawa, Ryo; Ohara, Hiroaki; Takeuchi, Akihide; Hayashi, Shinichiro; Goto, Yu-ichi; Hagiwara, Masatoshi; Nishino, Ichizo; Noguchi, Satoru Share Save Share Save Profiling of pathogenic variants in Japanese patients with sarcoglycanopathyShimazaki, Rui; Saito, Yoshihiko; Awaya, Tomonari; Minami, Narihiro; Kurosawa, Ryo; Hosokawa, Motoyasu; Ohara, Hiroaki; Hayashi, Shinichiro; Takeuchi, Akihide; Hagiwara, Masatoshi; Hayashi, Yukiko K.; Noguchi, Satoru; Nishino, Ichizo Share Save Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMorimoto, Marie; Ryu, Eunjin; Steger, Benjamin J.; Dixit, Abhijit; Saito, Yoshihiko; Yoo, Juyeong; van der Ven, Amelie T.; Hauser, Natalie; Steinbach, Peter J.; Oura, Kazumasa; Huang, Alden Y.; Kortum, Fanny; Ninomiya, Shinsuke; Rosenthal, Elisabeth A.; Robinson, Hannah K.; Guegan, Katie; Denecke, Jonas; Subramony, Sankarasubramoney H.; Diamonstein, Callie J.; Ping, Jie; Fenner, Mark; Balton, Elsa, V; Strohbehn, Sam; Allworth, Aimee; Bamshad, Michael J.; Gandhi, Mahi; Dipple, Katrina M.; Blue, Elizabeth E.; Jarvik, Gail P.; Lau, C. Christopher; Holm, Ingrid A.; Weisz-Hubshman, Monika; Solomon, Benjamin D.; Nelson, Stanley F.; Nishino, Ichizo; Adams, David R.; Kang, Sukhyun; Gahl, William A.; Toro, Camilo; Myung, Kyungjae; Malicdan, May Christine V. Share Save A 73-year-old Japanese Woman With Rheumatoid Arthritis and Exposure to Water From a WellKikuchi, Shinsuke; Saito, Yoshihiko; Tateishi, Takahisa; Irie, Ken-Ichi; Imai, Tatsuya; Morimitsu, Makoto; Iwanaga, Erina; Watts, Matthew R.; Taniwaki, Takayuki; Nishino, Ichizo Share Save Share Save DIFFERENCES IN PHYSICAL FUNCTION AND BODY COMPOSITION BETWEEN LATE-ONSET AND YOUNG- ONSET RHEUMATOID ARTHRITIS (FAIRY STUDY)Saito, Y.; Suzuki, M.; Sugiura, T.; Yamamoto, H.; Sato, R.; Kosugiyama, H.; Ohno, Y.; Hasegawa, J.; Terabe, K.; Asai, S.; Imagama, S. Share Save EVALUATION OF PHYSICAL FUNCTION IN RHEUMATOID ARTHRITIS PATIENTS BY LOCOMOTIVE SYNDROME STAGEYamamoto, H.; Suzuki, M.; Sugiura, T.; Saito, Y.; Terabe, K.; Sato, R.; Kosugiyama, H.; Hasegawa, J.; Ohno, Y.; Asai, S.; Imagama, S. Share Save Pathologic Features of Anti-Ku MyositisOyama, Munenori; Holzer, Marie-Therese; Ohnuki, Yuko; Saito, Yoshihiko; Nishimori, Yukako; Suzuki, Shingo; Shiina, Takashi; Leonard-Louis, Sarah; Benveniste, Olivier; Schneider, Udo; Stenzel, Werner; Nishino, Ichizo; Suzuki, Shigeaki; Uruha, Akinori Share Save Share Save Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathySchiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, Marta; Chou, Tsui-Fen; Li, Shan; Wang, Feng; Daw, Jil; Stojkovic, Tanya; Villar-Quiles, Rocio; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Katsuno, Masahisa; Noda, Seiya; Ito, Chihiro; Otsuka, Mieko; Nahir, Sruthi; Manousakis, Georgios; Walk, David; Quinn, Colin; Alfano, Lindsay; Sahenk, Zarife; Tasca, Giorgio; Monforte, Mauro; Sabatelli, Mario; Bisogni, Giulia; Oldfors, Anders; Rydeliu, Anna; Pal, Endre; Paradas, Carmen; Velez, Beatriz; De Bleecker, Jan L.; Farugia, Maria Elena; Longman, Cheryl; Harms, Matthew B.; Ralston, Stuart; Zanoteli, Edmar; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris Share Save Share Save Association Between HLA Alleles and Autoantibodies in Dermatomyositis Defined by Sarcoplasmic Expression of Myxovirus Resistance Protein AOyama, Munenori; Ohnuki, Yuko; Uruha, Akinori; Saito, Yoshihiko; Nishimori, Yukako; Suzuki, Shingo; Inoue, Michio; Tanboon, Jantima; Okiyama, Naoko; Shiina, Takashi; Nishino, Ichizo; Suzuki, Shigeaki Share Save Share Save Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencingHiramuki, Yosuke; Kure, Yuriko; Saito, Yoshihiko; Ogawa, Megumu; Ishikawa, Keiko; Mori-Yoshimura, Madoka; Oya, Yasushi; Takahashi, Yuji; Kim, Dae-Seong; Arai, Noriko; Mori, Chiaki; Matsumura, Tsuyoshi; Hamano, Tadanori; Nakamura, Kenichiro; Ikezoe, Koji; Hayashi, Shinichiro; Goto, Yuichi; Noguchi, Satoru; Nishino, Ichizo Share Save Share Save 
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