Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy

por Fujiwara, Takuya, Watanabe, Yoshiyuki, Tanaka, Hisashi, Takahashi, Hiroto, Nabatame, Shin, Yi, Wang, Tomiyama, Noriyuki
Publicado 2019

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

por Akaba, Yuichi, Takahashi, Satoru, Takeguchi, Ryo, Tanaka, Ryosuke, Nabatame, Shin, Saitsu, Hirotomo, Matsumoto, Naomichi
Publicado 2021

Clinical evaluation of neuroinflammation in child-onset focal epilepsy: a translocator protein PET study

por Kagitani-Shimono, Kuriko, Kato, Hiroki, Kuwayama, Ryoko, Tominaga, Koji, Nabatame, Shin, Kishima, Haruhiko, Hatazawa, Jun, Taniike, Masako
Publicado 2021

Comparison of Silent and Conventional MR Imaging for the Evaluation of Myelination in Children

por Matsuo-Hagiyama, Chisato, Watanabe, Yoshiyuki, Tanaka, Hisashi, Takahashi, Hiroto, Arisawa, Atsuko, Yoshioka, Eri, Nabatame, Shin, Nakano, Sayaka, Tomiyama, Noriyuki
Publicado 2016

Extension of microglial activation is associated with epilepsy and cognitive dysfunction in Tuberous sclerosis complex: A TSPO-PET study

por Kagitani-Shimono, Kuriko, Kato, Hiroki, Soeda, Fumihiko, Iwatani, Yoshiko, Mukai, Masashi, Ogawa, Katsuhiro, Tominaga, Koji, Nabatame, Shin, Taniike, Masako
Publicado 2022

Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome

por OSHINO, Satoru, TANI, Naoki, KHOO, Hui Ming, KAGITANI-SHIMONO, Kuriko, NABATAME, Shin, TOMINAGA, Koji, YANAGISAWA, Takufumi, HIRATA, Masayuki, KISHIMA, Haruhiko
Publicado 2023

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1

por Kobayashi, Sachiko, Tanigawa, Junpei, Kondo, Hidehito, Nabatame, Shin, Maruoka, Azusa, Sho, Hiroyuki, Tanikawa, Kazuko, Inui, Ryoko, Otsuki, Michio, Shimomura, Iichiro, Ozono, Keiichi, Hashimoto, Kunihiko
Publicado 2020

Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy

por Kuwayama, Ryoko, Suzuki, Keiichiro, Nakamura, Jun, Aizawa, Emi, Yoshioka, Yoshichika, Ikawa, Masahito, Nabatame, Shin, Inoue, Ken-ichi, Shimmyo, Yoshiari, Ozono, Keiichi, Kinoshita, Taroh, Murakami, Yoshiko
Publicado 2022

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series

por Satomura, Yoshinori, Bessho, Kazuhiko, Nawa, Nobutoshi, Kondo, Hidehito, Ito, Shogo, Togawa, Takao, Yano, Masanao, Yamano, Yuki, Inoue, Taisuke, Fukui, Miho, Onuma, Shinsuke, Fukuoka, Tomoya, Yasuda, Kie, Kimura, Takeshi, Tachibana, Makiko, Kitaoka, Taichi, Nabatame, Shin, Ozono, Keiichi
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