Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

por TANI, Naomi, YAMADA, Nanako, OKAZAKI, Tetsuya, HORIE, Takashi, NAKANO, Hajime, SAWAMURA, Daisuke, YAMAMOTO, Osamu
Publicado 2020

Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants

por Okazaki, Tetsuya, Matsuura, Kaori, Kasagi, Noriko, Adachi, Kaori, Kai, Masachika, Okubo, Mariko, Nishino, Ichizo, Nanba, Eiji, Maegaki, Yoshihiro
Publicado 2020

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

por Okazaki, Tetsuya, Yamada, Hiroyuki, Matsuura, Kaori, Kasagi, Noriko, Miyake, Noriko, Matsumoto, Naomichi, Adachi, Kaori, Nanba, Eiji, Maegaki, Yoshihiro
Publicado 2021

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

por Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Aoki, Chisako, Kasagi, Noriko, Adachi, Kaori, Saida, Ken, Matsumoto, Naomichi, Nanba, Eiji, Maegaki, Yoshihiro
Publicado 2022

Probing the Inhibitor versus Chaperone Properties of sp(2)-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

por Mena-Barragán, Teresa, García-Moreno, M. Isabel, Sevšek, Alen, Okazaki, Tetsuya, Nanba, Eiji, Higaki, Katsumi, Martin, Nathaniel I., Pieters, Roland J., Fernández, José M. García, Mellet, Carmen Ortiz
Publicado 2018

Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

por Baba, Shimpei, Okanishi, Tohru, Homma, Yoichiro, Yoshida, Takeshi, Goto, Tomohide, Fukasawa, Tatsuya, Kobayashi, Satoru, Kamei, Atsushi, Fujii, Yuji, Hino‐Fukuyo, Naomi, Yamada, Keitaro, Daida, Atsuro, Kawawaki, Hisashi, Hoshino, Hideki, Sejima, Hitoshi, Ishida, Yusuke, Okazaki, Tetsuya, Inui, Takehiko, Kanai, Sotaro, Motoi, Hirotaka, Itamura, Shinji, Nishimura, Mitsuyo, Enoki, Hideo, Fujimoto, Ayataka
Publicado 2021