檢索結果 - Mitsuhiro Kato

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  1. 1
    Lissencephaly and the molecular basis of neuronal migration

    Lissencephaly and the molecular basis of neuronal migration 由 Mitsuhiro Kato

    出版 2003
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  2. 2
    KIF1A mutation in a patient with progressive neurodegeneration

    KIF1A mutation in a patient with progressive neurodegeneration 由 Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

    出版 2014
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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) 由 Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka

    出版 2007
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  4. 4
    Characteristics of Postictal Headache in Patients with Partial Epilepsy

    Characteristics of Postictal Headache in Patients with Partial Epilepsy 由 M. Ito, Naoto Adachi, Fumihiko Nakamura, Tsukasa Koyama, Tomonori Okamura, Mitsuhiro Kato, Kousuke Kanemoto, Takashi Nakano, Masato Matsuura, S. Hara

    出版 2003
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  5. 5
    Effects of sports participation on psychiatric symptoms and brain activations during sports observation in schizophrenia

    Effects of sports participation on psychiatric symptoms and brain activations during sports observation in schizophrenia 由 Hidehiko Takahashi, Takeshi Sassa, Tomohisa Shibuya, Mitsuhiro Kato, Michihiko Koeda, Toshiya Murai, Masato Matsuura, Kazuki Asai, Tetsuya Suhara, Yoshiro Okubo

    出版 2012
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  6. 6
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

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

    出版 2015
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  7. 7
    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 由 Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2015
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  8. 8
    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

    De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly 由 Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    出版 2011
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  9. 9
    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> 由 Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko Saito, Yushi Inoue

    出版 2022
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  10. 10
    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 由 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

    出版 2014
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  11. 11
    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 由 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

    出版 2016
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  12. 12
    WDR45 mutations in three male patients with West syndrome

    WDR45 mutations in three male patients with West syndrome 由 Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, Shinsaku Yoshitomi, Masayuki Shimono, Yoshihiro Aoki, Mitsuhiro Kato, Noriko Aida, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2016
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  13. 13
    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing 由 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

    出版 2015
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  14. 14
    Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human <scp>iPSC</scp> model for <i><scp>STXBP</scp>1</i>‐related epileptic encephalopathy

    Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human <scp>iPSC</scp> model for <i><scp>STXBP</scp>1</i>‐related epileptic encephalopathy 由 Satoshi Yamashita, Tomohiro Chiyonobu, Michiko Yoshida, Hiroshi Maéda, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Masafumi Morimoto, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Tatsutoshi Nakahata, Megumu K. Saito, Hajime Hosoi

    出版 2016
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  15. 15
    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

    Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency 由 Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Akihiko Miyauchi, Mitsuhiro Kato, Ayumi Matsumoto, Takahiro Ikeda, Kazuyuki Nakamura, Tetsuo Kubota, Hiroaki Mizukami, Sayaka Ono, Y. Onuki, Toshihiko Satō, Hitoshi Osaka, Shin‐ichi Muramatsu, Takanori Yamagata

    出版 2018
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  16. 16
    Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

    Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay 由 Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai, Winnie Ong, Hideaki Shiraishi, Shota Yuasa, Hiroshi Matsumoto, Khoo Teik Beng, Shinji Saitoh, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

    出版 2016
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  17. 17
    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

    De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy 由 Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto, Hirotomo Saitsu

    出版 2013
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  18. 18
    <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 由 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

    出版 2018
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  19. 19
    <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 由 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

    出版 2015
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  20. 20
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 由 Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint

    出版 2020
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