6q21–22 deletion syndrome with interrupted aortic arch

por Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori
Publicado 2015

The ATRX splicing variant c.21-1G>A is asymptomatic

por Kojima, Karin, Wada, Takahito, Shimbo, Hiroko, Ikeda, Takahiro, Jimbo, Eriko F., Saitsu, Hirotomo, Matsumoto, Naomichi, Yamagata, Takanori
Publicado 2022

Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders

por Goto, Masahide, Mizuno, Makoto, Matsumoto, Ayumi, Yang, Zhiliang, Jimbo, Eriko F., Tabata, Hidenori, Yamagata, Takanori, Nagata, Koh-ichi
Publicado 2017

LIN7A Depletion Disrupts Cerebral Cortex Development, Contributing to Intellectual Disability in 12q21-Deletion Syndrome

por Matsumoto, Ayumi, Mizuno, Makoto, Hamada, Nanako, Nozaki, Yasuyuki, Jimbo, Eriko F., Momoi, Mariko Y., Nagata, Koh-ichi, Yamagata, Takanori
Publicado 2014

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome

por Nakamura, Sachie, Osaka, Hitoshi, Muramatsu, Shin-ichi, Takino, Naomi, Ito, Mika, Aoki, Shiho, Jimbo, Eriko F., Shimazaki, Kuniko, Onaka, Tatsushi, Ohtsuki, Sumio, Terasaki, Tetsuya, Yamagata, Takanori
Publicado 2017

Total and reduced/oxidized forms of coenzyme Q(10) in fibroblasts of patients with mitochondrial disease

por Watanabe, Chika, Osaka, Hitoshi, Watanabe, Miyuki, Miyauchi, Akihiko, Jimbo, Eriko F., Tokuyama, Takeshi, Uosaki, Hideki, Kishita, Yoshihito, Okazaki, Yasushi, Onuki, Takanori, Ebihara, Tomohiro, Aizawa, Kenichi, Murayama, Kei, Ohtake, Akira, Yamagata, Takanori
Publicado 2023