Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report

por Sato, Takeshi, Muroya, Koji, Hanakawa, Junko, Yamashita, Sumimasa, Nozawa, Kumiko, Masudo, Katsuhiko, Yamakawa, Tadashi, Asakura, Yumi, Hasegawa, Tomonobu, Adachi, Masanori
Publicado 2016

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

por Shimbo, Hiroko, Takagi, Mariko, Okuda, Mitsuko, Tsuyusaki, Yu, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Ohtake, Akira, Goto, Yu-ichi, Aida, Noriko, Osaka, Hitoshi
Publicado 2014

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

por Ishii, Atsushi, Saito, Yoshiaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Arai, Hidee, Yamashita, Sumimasa, Kimura, Sadami, Oguni, Hirokazu, Morishita, Shinichi, Tsuji, Shoji, Sasaki, Masayuki, Hirose, Shinichi
Publicado 2013

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

por Higuchi, Yujiro, Okunushi, Ryuta, Hara, Taichi, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Murayama, Kei, Ohtake, Akira, Ando, Masahiro, Hiramatsu, Yu, Ishihara, Satoshi, Tanabe, Hajime, Okamoto, Yuji, Matsuura, Eiji, Ueda, Takehiro, Toda, Tatsushi, Yamashita, Sumimasa, Yamada, Kenichiro, Koide, Takashi, Yaguchi, Hiroaki, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Sato, Ken, Nakagawa, Masanori, Yamaguchi, Masamitsu, Tsuji, Shoji, Takashima, Hiroshi
Publicado 2018