Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

por Matoba, Kento, Chihara, Norio, Satake, Wataru, Tokuoka, Hideki, Otsuka, Yoshihisa, Ueda, Takehiro, Sekiguchi, Kenji, Itoh, Masayuki, Matsumoto, Riki
Publicado 2022

CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model

por Tokuoka, Hideki, Imae, Rieko, Nakashima, Hitomi, Manya, Hiroshi, Masuda, Chiaki, Hoshino, Shunsuke, Kobayashi, Kazuhiro, Lefeber, Dirk J., Matsumoto, Riki, Okada, Takashi, Endo, Tamao, Kanagawa, Motoi, Toda, Tatsushi
Publicado 2022

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis

por Nishida, Yoshiaki, Nakamura, Masayuki, Urata, Yuka, Kasamo, Kei, Hiwatashi, Hanae, Yokoyama, Izumi, Mizobuchi, Masahiro, Sakurai, Kotaro, Osaki, Yasushi, Morita, Yukari, Watanabe, Masako, Yoshida, Kenji, Yamane, Kiyomi, Miyakoshi, Natsuki, Okiyama, Ryouichi, Ueda, Takehiro, Wakasugi, Noritaka, Saitoh, Yuji, Sakamoto, Takashi, Takahashi, Yuji, Shibano, Ken, Tokuoka, Hideki, Hara, Atsushi, Monma, Kazunari, Ogata, Katsuhisa, Kakuda, Keita, Mochizuki, Hideki, Arai, Takeo, Araki, Manabu, Fujii, Takeshi, Tsukita, Kazuto, Sakamaki-Tsukita, Haruhi, Sano, Akira
Publicado 2019