1. A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course. (January 2018) Authors: Kuwabara, Kozue; Kawarai, Toshitaka; Ishida, Yasushi; Miyamoto, Ryosuke; Oki, Ryosuke; Orlacchio, Antonio; Nomura, Yoshiko; Fukuda, Mitsumasa; Ishii, Eiichi; Shintaku, Haruo; Kaji, Ryuji Journal: Parkinsonism & related disorders Issue: Volume 46(2018) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby. Issue 1 (17th July 2019) Authors: Yamada, Kenji; Matsubara, Keiichi; Matsubara, Yuko; Watanabe, Asami; Kawakami, Sanae; Ochi, Fumihiro; Kuwabara, Kozue; Mushimoto, Yuichi; Kobayashi, Hironori; Hasegawa, Yuki; Fukuda, Seiji; Yamaguchi, Seiji; Taketani, Takeshi Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Renal dysfunction can occur in advanced‐stage Duchenne muscular dystrophy. Issue 2 (28th November 2019) Authors: Motoki, Takahiro; Shimizu‐Motohashi, Yuko; Saito, Isao; Komaki, Hirofumi; Ishiyama, Akihiko; Aibara, Kaori; Jogamoto, Toshihiro; Tezuka, Yuko; Kawabe, Mika; Makino, Akira; Nagatani, Koji; Tatara, Katsunori; Kuwabara, Kozue; Kikuchi, Chiya; Fukuda, Mitsumasa; Ishii, Eiichi; Eguchi, Mariko Journal: Muscle & nerve Issue: Volume 61:Issue 2(2020) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗