Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment

par Mizuguchi, Masashi, Ohsawa, Maki, Kashii, Hirofumi, Sato, Atsushi
Publié dans Int J Mol Sci (2021)

PT707. Transcriptome analysis in Tsc2 heterozygous knockout mice

par Kasai, Shinya, Hino, Okio, Ikeda, Kazutaka, Kashii, Hirofumi, Kobayashi, Toshiyuki, Mizuguchi, Masashi, Sato, Atsushi
Publié dans Int J Neuropsychopharmacol (2016)

Analysis of a child who developed abnormal neuropsychiatric symptoms after administration of oseltamivir: a case report

par Morimoto, Kaori, Nagaoka, Kei, Nagai, Akira, Kashii, Hirofumi, Hosokawa, Masakiyo, Takahashi, Yukitoshi, Ogihara, Takuo, Kubota, Masaya
Publié dans BMC Neurol (2015)

Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero

par Kotajima-Murakami, Hiroko, Kobayashi, Toshiyuki, Kashii, Hirofumi, Sato, Atsushi, Hagino, Yoko, Tanaka, Miho, Nishito, Yasumasa, Takamatsu, Yukio, Uchino, Shigeo, Ikeda, Kazutaka
Publié dans Mol Brain (2019)

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

par Arisaka, Atsuko, Nakashima, Mitsuko, Kumada, Satoko, Inoue, Kenji, Nishida, Hiroya, Mashimo, Hideaki, Kashii, Hirofumi, Kato, Mitsuhiro, Maruyama, Koichi, Okumura, Akihisa, Saitsu, Hirotomo, Matsumoto, Naomichi, Fukuda, Mitsumasa
Publié dans Epilepsy Behav Rep (2020)

Brain hyperserotonemia causes autism-relevant social deficits in mice

par Tanaka, Miho, Sato, Atsushi, Kasai, Shinya, Hagino, Yoko, Kotajima-Murakami, Hiroko, Kashii, Hirofumi, Takamatsu, Yukio, Nishito, Yasumasa, Inagaki, Masumi, Mizuguchi, Masashi, Hall, F. Scott, Uhl, George R., Murphy, Dennis, Sora, Ichiro, Ikeda, Kazutaka
Publié dans Mol Autism (2018)

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

par 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
Publié dans Nat Commun (2019)

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

par den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.
Publié dans Am J Hum Genet (2021)