Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly

por Kinoshita, Yuya, Ueno, Hiroe, Kurata, Hirofumi, Ikeda, Chizuru, Hori, Erika, Okada, Takumi, Shimazu, Tomoyuki, Fujii, Isao, Matsukura, Makoto, Imamura, Hoseki
Publicado 2022

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

por Kashiki, Hitoshi, Li, Heng, Miyamoto, Sachiko, Ueno, Hiroe, Tsurusaki, Yoshinori, Ikeda, Chizuru, Kurata, Hirofumi, Okada, Takumi, Shimazu, Tomoyuki, Imamura, Hoseki, Enomoto, Yumi, Takanashi, Jun-ichi, Kurosawa, Kenji, Saitsu, Hirotomo, Inoue, Ken
Publicado 2020