Dopamine Modulates Cell Cycle in the Lateral Ganglionic Eminence

Autor Ohtani, Nobuyo, Goto, Tomohide, Waeber, Christian, Bhide, Pradeep G.
Vydáno 2003

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

Autor Ichikawa, Kazushi, Tsuji, Megumi, Tsuyusaki, Yu, Tomiyasu, Moyoko, Aida, Noriko, Goto, Tomohide
Vydáno v JIMD Rep (2018)

Discordant phenotype caused by CASK mutation in siblings with NF1

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

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

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

Nonsense variants of STAG2 result in distinct congenital anomalies

Autor 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
Vydáno v Hum Genome Var (2020)

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v Epilepsia Open (2021)

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

Autor 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
Vydáno 2010

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

Autor 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
Vydáno v Nat Commun (2019)