Ictal (99m)Tc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia

por Kimizu, Tomokazu, Toshikawa, Hiromitsu, Kimura, Sadami, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Kishima, Haruhiko, Suzuki, Yasuhiro
Publicado 2015

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy

por Niba, Emma Tabe Eko, Nishio, Hisahide, Wijaya, Yogik Onky Silvana, Ar Rochmah, Mawaddah, Takarada, Toru, Takeuchi, Atsuko, Kimizu, Tomokazu, Okamoto, Kentaro, Saito, Toshio, Awano, Hiroyuki, Takeshima, Yasuhiro, Shinohara, Masakazu
Publicado 2022

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

por Kimizu, Tomokazu, Ida, Shinobu, Okamoto, Kentaro, Awano, Hiroyuki, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Okazaki, Shin, Shimomura, Hideki, Lee, Tomoko, Tominaga, Koji, Nabatame, Shin, Saito, Toshio, Hamazaki, Takashi, Sakai, Norio, Saito, Kayoko, Shintaku, Haruo, Nozu, Kandai, Takeshima, Yasuhiro, Iijima, Kazumoto, Nishio, Hisahide, Shinohara, Masakazu
Publicado 2021

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

por Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, Matsumoto, Naomichi
Publicado 2019