Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation

by Yuko Nitahara-Kasahara, Yuko Nitahara-Kasahara, Guillermo Posadas-Herrera, Shuji Mizumoto, Aki Nakamura-Takahashi, Yukiko U. Inoue, Takayoshi Inoue, Yoshihiro Nomura, Shin’ichi Takeda, Shuhei Yamada, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Takashi Okada
Published 2021-10-01

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

by Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
Published 2017-03-01

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

by Tomoki Kosho, Shuji Mizumoto, Takafumi Watanabe, Takahiro Yoshizawa, Noriko Miyake, Shuhei Yamada
Published 2019-12-01

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in...

by Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho
Published 2020-12-01

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis—Case Series

by Tsukasa Kobayashi, Yukio Nakamura, Takako Suzuki, Tomomi Yamaguchi, Ryojun Takeda, Masaki Takagi, Tomonobu Hasegawa, Tomoki Kosho, Hiroyuki Kato
Published 2018-11-01

Challenges of Transarticular Screw Fixation in Young Children: Report of Surgical Treatment of a 5-Year-Old Patient's Unstable Os-Odontoideum

by Jun Takahashi, Hiroki Hirabayashi, Hiroyuki Hashidate, Nobuhide Ogihara, Keijiro Mukaiyama, Masatoshi Komatsu, Yuji Inaba, Tomoki Kosho, Hiroyuki Kato
Published 2016-10-01

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

by Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho
Published 2020-05-01

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of <i>OTOA</i>-Associated Hearing Loss

by Kenjiro Sugiyama, Hideaki Moteki, Shin-ichiro Kitajiri, Tomohiro Kitano, Shin-ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Satoko Abe, Akiko Ozaki, Remi Motegi, Hirooki Matsui, Masato Teraoka, Yumiko Kobayashi, Tomoki Kosho, Shin-ichi Usami
Published 2019-09-01