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 no BJR Case Rep (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 no Clin Case Rep (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 no J Neuroinflammation (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 no Magn Reson Med Sci (2016)

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 no J Endocr Soc (2020)

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 no Int J Neonatal Screen (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 no Nat Commun (2019)