Mouse Models of Musculocontractural Ehlers-Danlos Syndrome

por Yoshizawa, Takahiro, Kosho, Tomoki
Publicado 2023

Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type

por Uehara, Masashi, Takahashi, Jun, Kosho, Tomoki
Publicado 2023

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells

por Yue, Fengming, Era, Takumi, Yamaguchi, Tomomi, Kosho, Tomoki
Publicado 2023

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

por Mizumoto, Shuji, Kosho, Tomoki, Yamada, Shuhei, Sugahara, Kazuyuki
Publicado 2017

Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence

por Hayashi, Shujiro, Yamaguchi, Tomomi, Kosho, Tomoki, Igawa, Ken
Publicado 2022

Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A

por Nakamura, Katsuya, Yoshinaga, Tsuneaki, Kodaira, Minori, Kise, Emiko, Kosho, Tomoki, Sekijima, Yoshiki
Publicado 2023

Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation

por Ideta, Hirokazu, Uchiyama, Shigeharu, Hayashi, Masanori, Kosho, Tomoki, Nakamura, Yukio, Kato, Hiroyuki
Publicado 2017

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome

por Kosho, Tomoki, Mizumoto, Shuji, Watanabe, Takafumi, Yoshizawa, Takahiro, Miyake, Noriko, Yamada, Shuhei
Publicado 2019

Atypical Sotos syndrome caused by a novel splice site variant

por Minatogawa, Mari, Tsuji, Taichi, Inaba, Mie, Kawakami, Noriaki, Mizuno, Seiji, Kosho, Tomoki
Publicado 2022

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome

por Isobe, Fumihiro, Hayashi, Masanori, Kobayashi, Rena, Nakamura, Manami, Kosho, Tomoki, Takahashi, Jun
Publicado 2022

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

por Kawakita, Masayuki, Iwasaki, Satoshi, Moteki, Hideaki, Nishio, Shin-ya, Kosho, Tomoki, Usami, Shin-ichi
Publicado 2023

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

por Kondo, Yasufumi, Yoshinaga, Tsuneaki, Nakamura, Katsuya, Yamaguchi, Tomomi, Ishikawa, Masumi, Kosho, Tomoki, Sekijima, Yoshiki
Publicado 2022

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

por Hidaka, Kouko, Inai, Tetsuichiro, Kosho, Tomoki, Yamaguchi, Tomomi, Kawabata, Yoshinori, Inai, Yuko, Imamura, Shogo, Sanada, Sakiko
Publicado 2023

Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHS...

por Kobayashi, Tomoko, Fujishima, Fumiyoshi, Tokodai, Kazuaki, Sato, Chiaki, Kamei, Takashi, Miyake, Noriko, Matsumoto, Naomichi, Kosho, Tomoki
Publicado 2023

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the...

por Yamaguchi, Tomomi, Hayashi, Shujiro, Nagai, So, Uchiyama, Akihiko, Motegi, Sei-Ichiro, Fujikawa, Tomomi, Takiguchi, Yuri, Kosho, Tomoki
Publicado 2023

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

por Ishikawa, Satoko, Hayashi, Shujiro, Sairenchi, Toshimi, Miyamoto, Manabu, Yoshihara, Shigemi, Kobashi, Gen, Yamaguchi, Tomomi, Kosho, Tomoki, Igawa, Ken
Publicado 2023

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

por Takahashi, Jun, Hirabayashi, Hiroki, Hashidate, Hiroyuki, Ogihara, Nobuhide, Mukaiyama, Keijiro, Komatsu, Masatoshi, Inaba, Yuji, Kosho, Tomoki, Kato, Hiroyuki
Publicado 2016

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

por Kobayashi, Tsukasa, Nakamura, Yukio, Suzuki, Takako, Yamaguchi, Tomomi, Takeda, Ryojun, Takagi, Masaki, Hasegawa, Tomonobu, Kosho, Tomoki, Kato, Hiroyuki
Publicado 2018

Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case report

por Uehara, Masashi, Nakamura, Yukio, Takahashi, Jun, Suzuki, Takako, Iijima, Mari, Arakawa, Yuko, Ida, Koichi, Kosho, Tomoki, Kato, Hiroyuki
Publicado 2019

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...

por Nishizawa, Hitomi, Sato, Yoshihiko, Ishikawa, Masumi, Arakawa, Yuko, Iijima, Mari, Akiyama, Tomoyuki, Takano, Kyoko, Watanabe, Atsushi, Kosho, Tomoki
Publicado 2020