Resultats de la cerca - Jun Tohyama

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  1. 1
    Single and Multiple Clusters of Magnetoencephalographic Dipoles in Neocortical Epilepsy: Significance in Characterizing the Epileptogenic Zone

    Single and Multiple Clusters of Magnetoencephalographic Dipoles in Neocortical Epilepsy: Significance in Characterizing the Epileptogenic Zone per Makoto Oishi, Shigeki Kameyama, Hiroshi Masuda, Jun Tohyama, Osamu Kanazawa, Mutsuo Sasagawa, Hiroshi Otsubo

    Publicat 2006
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  2. 2
    Stiripentol open study in Japanese patients with Dravet syndrome

    Stiripentol open study in Japanese patients with Dravet syndrome per Yushi Inoue, Yoko Ohtsuka, Hirokazu Oguni, Jun Tohyama, Hiroshi Baba, Katsuyuki Fukushima, Hideyuki Ohtani, Yukitoshi Takahashi, Shunya Ikeda

    Publicat 2009
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  3. 3
    A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

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

    Publicat 2007
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  4. 4
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

    SPTAN1 encephalopathy: distinct phenotypes and genotypes per Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, Ch'ng Gaik-Siew, Rie Miyata, Zvonka Rener‐Primec, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    Publicat 2015
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  5. 5
    High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

    High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders per Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

    Publicat 2015
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  6. 6
    Sirolimus for epileptic seizures associated with focal cortical dysplasia type <scp>II</scp>

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

    Publicat 2022
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  7. 7
    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation per Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary‐Claire King, Naomichi Matsumoto

    Publicat 2014
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  8. 8
    Somatic mutations in <i> <scp>GLI</scp> 3 </i> and <i> <scp>OFD</scp> 1 </i> involved in sonic hedgehog signaling cause hypothalamic hamartoma

    Somatic mutations in <i> <scp>GLI</scp> 3 </i> and <i> <scp>OFD</scp> 1 </i> involved in sonic hedgehog signaling cause hypothalamic hamartoma per Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama, Naomichi Matsumoto

    Publicat 2016
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  9. 9
    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing per Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg‐Stern, Yu Kobayashi, Roni Cohen, Mitsuhiro Kato, Chihiro Ohba, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto

    Publicat 2015
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  10. 10
    Acute encephalopathy in children with Dravet syndrome

    Acute encephalopathy in children with Dravet syndrome per Akihisa Okumura, Mitsugu Uematsu, George Imataka, Manabu Tanaka, Tohru Okanishi, Tetsuo Kubota, Akira Sudo, Jun Tohyama, Megumi Tsuji, Iori Ohmori, Misako Naiki, Ayako Hiraiwa‐Sofue, Hitoshi Sato, Shinji Saitoh, Toshiaki Shimizu

    Publicat 2011
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  11. 11
    <i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders

    <i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders per Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

    Publicat 2018
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  12. 12
    <i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

    <i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders per Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman‐Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki, Mitsugu Uematsu, Akira Onuma, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Mitsuhiro Kato, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto

    Publicat 2015
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  13. 13
    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy

    De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy per Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara, Jun Tohyama, Shin Nabatame, Junji Azuma, Yuji Fujii, Munetsugu Hara, Reimi Tsurusawa, Takahito Inoue, Reina Ogata, Yoriko Watanabe, Noriko Togashi, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    Publicat 2015
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  14. 14
    De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

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

    Publicat 2013
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  15. 15
    De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

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

    Publicat 2020
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  16. 16
    ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

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

    Publicat 2021
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  17. 17
    Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

    Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay per Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, T Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

    Publicat 2010
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  18. 18
    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

    Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy per Hirofumi Kodera, Mitsuhiro Kato, Alex S. Nord, Tom Walsh, Ming Lee, Gaku Yamanaka, Jun Tohyama, Kazuyuki Nakamura, Eiji Nakagawa, Tae Ikeda, Bruria Ben‐Zeev, Dorit Lev, Tally Lerman‐Sagie, Rachel Straussberg, Saori Tanabe, Kazutoshi Ueda, Masano Amamoto, Sayaka Ohta, Yutaka Nonoda, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Mary‐Claire King, Naomichi Matsumoto, Hirotomo Saitsu

    Publicat 2013
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  19. 19
    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

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

    Publicat 2017
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  20. 20
    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder per Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

    Publicat 2018
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