檢索結果 - Tohyama, Jun 

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism 由 Sangu, Noriko, Shimojima, Keiko, Takahashi, Yuya, Ohashi, Tsukasa, Tohyama, Jun, Yamamoto, Toshiyuki

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Corrigendum to “Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child” 由 Suzuki, Ryo, Tanaka, Atsushi, Matsui, Toshiharu, Gunji, Tetsuki, Tohyama, Jun, Narita, Aya, Nanba, Eiji, Ohno, Kousaku

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Neuropsychiatric Disorder Associated with Group G Streptococcus Infection 由 Okumura, Rie, Yamazaki, Sawako, Ohashi, Tsukasa, Magara, Shinichi, Tohyama, Jun, Sakuma, Hiroshi, Hayashi, Masaharu, Saitoh, Akihiko

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) 由 Kato, Mitsuhiro , Saitoh, Shinji , Kamei, Atsushi , Shiraishi, Hideaki , Ueda, Yuki , Akasaka, Manami , Tohyama, Jun , Akasaka, Noriyuki , Hayasaka, Kiyoshi 

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Lecithin: cholesterol acyltransferase expression has minimal effects on macrophage reverse cholesterol transport in vivo 由 Tanigawa, Hiroyuki, Billheimer, Jeffrey T., Tohyama, Jun-ichiro, Fuki, Ilia V., Ng, Dominic S., Rothblat, George H., Rader, Daniel J.

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Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine 由 Maruyama, Hiroki, Takata, Takuma, Tsubata, Yutaka, Tazawa, Ryushi, Goto, Kiyoe, Tohyama, Jun, Narita, Ichiei, Yoshioka, Hidekatsu, Ishii, Satoshi

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Hypocretin-1 levels in the cerebrospinal fluid of patients with Percheron artery infarction with or without midbrain involvement: A case series 由 Suzuki, Keisuke, Miyamoto, Tomoyuki, Miyamoto, Masayuki, Maeda, Hiroto, Nokura, Kazuya, Tohyama, Jun, Hirata, Koichi, Shimizu, Tetsuo, Kanbayashi, Takashi

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Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy 由 Komatsubara, Takao, Kobayashi, Yu, Hiraiwa, Akiko, Magara, Shinichi, Hojo, Moemi, Ono, Takeshi, Okazaki, Kenichi, Fukuda, Masafumi, Tohyama, Jun

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy 由 Negishi, Yutaka, Ieda, Daisuke, Hori, Ikumi, Nozaki, Yasuyuki, Yamagata, Takanori, Komaki, Hirofumi, Tohyama, Jun, Nagasaki, Keisuke, Tada, Hiroko, Saitoh, Shinji

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Sirolimus for epileptic seizures associated with focal cortical dysplasia type II 由 Kato, Mitsuhiro, Kada, Akiko, Shiraishi, Hideaki, Tohyama, Jun, Nakagawa, Eiji, Takahashi, Yukitoshi, Akiyama, Tomoyuki, Kakita, Akiyoshi, Miyake, Noriko, Fujita, Atsushi, Saito, Akiko M., Inoue, Yushi

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Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma 由 Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Kameyama, Shigeki, Matsumoto, Naomichi

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Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile 由 Ito, Masayuki, Nakagome, Kazuyuki, Ohta, Hiromitsu, Akasaka, Keiichi, Uchida, Yoshitaka, Hashimoto, Atsushi, Shiono, Ayako, Takada, Toshinori, Nagata, Makoto, Tohyama, Jun, Hagiwara, Koichi, Kanazawa, Minoru, Nakata, Koh, Tazawa, Ryushi

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Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures 由 Takahashi, Yukitoshi, Ota, Akiko, Tohyama, Jun, Kirino, Tomoko, Fujiwara, Yumi, Ikeda, Chizuru, Tanaka, Shigeki, Takahashi, Jyunya, Shinoki, Toshihiko, Shiraga, Hiroshi, Inoue, Takushi, Fujita, Hiroshi, Bonno, Motoki, Nagao, Masayoshi, Kaneko, Hideo

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De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders 由 Akita, Tenpei, Aoto, Kazushi, Kato, Mitsuhiro, Shiina, Masaaki, Mutoh, Hiroki, Nakashima, Mitsuko, Kuki, Ichiro, Okazaki, Shin, Magara, Shinichi, Shiihara, Takashi, Yokochi, Kenji, Aiba, Kaori, Tohyama, Jun, Ohba, Chihiro, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy 由 Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice 由 Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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De Novo Mutations in GNAO1, Encoding a Gα(o) Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy 由 Nakamura, Kazuyuki, Kodera, Hirofumi, Akita, Tenpei, Shiina, Masaaki, Kato, Mitsuhiro, Hoshino, Hideki, Terashima, Hiroshi, Osaka, Hitoshi, Nakamura, Shinichi, Tohyama, Jun, Kumada, Tatsuro, Furukawa, Tomonori, Iwata, Satomi, Shiihara, Takashi, Kubota, Masaya, Miyatake, Satoko, Koshimizu, Eriko, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement 由 Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji

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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy 由 Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo

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