Dopamine Modulates Cell Cycle in the Lateral Ganglionic Eminence

gan Ohtani, Nobuyo, Goto, Tomohide, Waeber, Christian, Bhide, Pradeep G.
Cyhoeddwyd 2003

Serial Magnetic Resonance Imaging and (1)H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

gan Ichikawa, Kazushi, Tsuji, Megumi, Tsuyusaki, Yu, Tomiyasu, Moyoko, Aida, Noriko, Goto, Tomohide
Cyhoeddwyd yn JIMD Rep (2018)

Discordant phenotype caused by CASK mutation in siblings with NF1

gan Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji
Cyhoeddwyd yn Hum Genome Var (2019)

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

gan Ikeda, Azusa, Yamamoto, Ayako, Ichikawa, Kazushi, Tsuyusaki, Yu, Tsuji, Megumi, Iai, Mizue, Enomoto, Yumi, Murakami, Hiroaki, Kurosawa, Kenji, Miyatake, Satoko, Matsumoto, Naomichi, Goto, Tomohide
Cyhoeddwyd yn Epilepsy Behav Rep (2019)

Nonsense variants of STAG2 result in distinct congenital anomalies

gan Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Cyhoeddwyd yn Hum Genome Var (2020)

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

gan Shinohara, Mayu, Saitoh, Makiko, Nishizawa, Daisuke, Ikeda, Kazutaka, Hirose, Shinichi, Takanashi, Jun-ichi, Takita, Junko, Kikuchi, Kenjiro, Kubota, Masaya, Yamanaka, Gaku, Shiihara, Takashi, Kumakura, Akira, Kikuchi, Masahiro, Toyoshima, Mitsuo, Goto, Tomohide, Yamanouchi, Hideo, Mizuguchi, Masashi
Cyhoeddwyd 2013

Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

gan Baba, Shimpei, Okanishi, Tohru, Homma, Yoichiro, Yoshida, Takeshi, Goto, Tomohide, Fukasawa, Tatsuya, Kobayashi, Satoru, Kamei, Atsushi, Fujii, Yuji, Hino‐Fukuyo, Naomi, Yamada, Keitaro, Daida, Atsuro, Kawawaki, Hisashi, Hoshino, Hideki, Sejima, Hitoshi, Ishida, Yusuke, Okazaki, Tetsuya, Inui, Takehiko, Kanai, Sotaro, Motoi, Hirotaka, Itamura, Shinji, Nishimura, Mitsuyo, Enoki, Hideo, Fujimoto, Ayataka
Cyhoeddwyd yn Epilepsia Open (2021)

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

gan Saitsu, Hirotomo, Tohyama, Jun, Kumada, Tatsuro, Egawa, Kiyoshi, Hamada, Keisuke, Okada, Ippei, Mizuguchi, Takeshi, Osaka, Hitoshi, Miyata, Rie, Furukawa, Tomonori, Haginoya, Kazuhiro, Hoshino, Hideki, Goto, Tomohide, Hachiya, Yasuo, Yamagata, Takanori, Saitoh, Shinji, Nagai, Toshiro, Nishiyama, Kiyomi, Nishimura, Akira, Miyake, Noriko, Komada, Masayuki, Hayashi, Kenji, Hirai, Syu-ichi, Ogata, Kazuhiro, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
Cyhoeddwyd 2010

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

gan 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
Cyhoeddwyd yn Nat Commun (2019)