Hasil Pencarian - Shinichi Hirose

Perbaiki Hasil
  1. 1
    Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

    Compromised function in the Nav1.2 Dravet syndrome mutation R1312T oleh Christoph Lossin, Xiuyu Shi, Michael A. Rogawski, Shinichi Hirose

    Diterbitkan 2012-09-01
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  2. 2
    Recurrent autonomic and sensory neuropathy in a patient with anti-ganglionic acetylcholine receptor antibodies

    Recurrent autonomic and sensory neuropathy in a patient with anti-ganglionic acetylcholine receptor antibodies oleh Eri Watanabe, Takako Fujita, Masayuki Shimono, Haruki Koike, Sawa Yasumoto, Shinichi Hirose

    Diterbitkan 2018-09-01
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  3. 3
    Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

    Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome oleh Yuichi Kimura, Yasuyoshi Tanaka, Naoto Shirasu, Shin'ichiro Yasunaga, Norimichi Higurashi, Shinichi Hirose

    Diterbitkan 2020-08-01
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  4. 4
    Development of Highly Functional Long-Term Culture Method of Liver Slice Embedded in Agarose Gel for Bioartificial Liver

    Development of Highly Functional Long-Term Culture Method of Liver Slice Embedded in Agarose Gel for Bioartificial Liver oleh Hideki Nonaka, Hirohiko Ise, Nobuhiro Sugihara, Shinichi Hirose, Naoki Negishi, Yoshiyuki Kondo, Toshihiro Akaike

    Diterbitkan 2003-07-01
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  5. 5
    Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance

    Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance oleh Tsuyoshi Isojima, Michiyasu Ishizawa, Kazuko Yoshimura, Mayuko Tamura, Shinichi Hirose, Makoto Makishima, Sachiko Kitanaka

    Diterbitkan 2015-06-01
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  6. 6
    Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.

    Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. oleh Yukiko Ihara, Yuko Tomonoh, Masanobu Deshimaru, Bo Zhang, Taku Uchida, Atsushi Ishii, Shinichi Hirose

    Diterbitkan 2016-01-01
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  7. 7
    Properties of a Novel GABAA Receptor γ2 Subunit Mutation Associated With Seizures

    Properties of a Novel GABAA Receptor γ2 Subunit Mutation Associated With Seizures oleh Keisuke Migita, Junko Yamada, Yoshikazu Nikaido, XiuYu Shi, Sunao Kaneko, Shinichi Hirose, Shinya Ueno

    Diterbitkan 2013-01-01
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  8. 8
    Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene

    Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene oleh Yasuyoshi Tanaka, Norimichi Higurashi, Naoto Shirasu, Shin'ichiro Yasunaga, Kevin Mello Moreira, Hideyuki Okano, Shinichi Hirose

    Diterbitkan 2018-08-01
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  9. 9
    Establishment of autaptic culture with human-induced pluripotent stem cell-derived astrocytes

    Establishment of autaptic culture with human-induced pluripotent stem cell-derived astrocytes oleh Kouya Uchino, Yasuyoshi Tanaka, Sayaka Kawaguchi, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Shinichi Hirose, Katsunori Iwasaki

    Diterbitkan 2022-08-01
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  10. 10
    Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner.

    Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner. oleh Yuki Nakamura, Xiuyu Shi, Tomohiro Numata, Yasuo Mori, Ryuji Inoue, Christoph Lossin, Tallie Z Baram, Shinichi Hirose

    Diterbitkan 2013-01-01
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  11. 11
    Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

    Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan oleh Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura

    Diterbitkan 2023-12-01
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  12. 12
    Mutation in the <i>STXBP1</i> Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

    Mutation in the <i>STXBP1</i> Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review oleh Kanako Takeda, Yusaku Miyamoto, Hisako Yamamoto, Toshiyuki Iwasaki, Noriko Sumitomo, Eri Takeshita, Atsushi Ishii, Shinichi Hirose, Naoki Shimizu

    Diterbitkan 2022-09-01
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  13. 13
    Newborn screening for Gaucher disease in Japan

    Newborn screening for Gaucher disease in Japan oleh Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo, Kimitoshi Nakamura

    Diterbitkan 2022-06-01
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  14. 14
    Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

    Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene oleh Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose

    Diterbitkan 2018-04-01
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  15. 15
    Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a +/− mouse model of Dravet syndrome

    Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a +/− mouse model of Dravet syndrome oleh Kouya Uchino, Hiroyuki Kawano, Yasuyoshi Tanaka, Yuna Adaniya, Ai Asahara, Masanobu Deshimaru, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Katsunori Iwasaki, Shinichi Hirose

    Diterbitkan 2021-05-01
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  16. 16
    Physical, cognitive, and social status of patients with urea cycle disorders in Japan

    Physical, cognitive, and social status of patients with urea cycle disorders in Japan oleh Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura

    Diterbitkan 2021-06-01
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  17. 17
    Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness

    Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness oleh Ryosuke Hanaya, Fajar H Niantiarno, Yumi Kashida, Hiroshi Hosoyama, Shinsuke Maruyama, Sei Sugata, Toshiaki Otsubo, Kazumi Tanaka, Atsushi Ishii, Shinichi Hirose, Kazunori Arita

    Diterbitkan 2017-01-01
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  18. 18
    Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

    Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. oleh Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose

    Diterbitkan 2017-01-01
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  19. 19
    Newborn screening for Fabry disease in the western region of Japan

    Newborn screening for Fabry disease in the western region of Japan oleh Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura

    Diterbitkan 2020-03-01
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  20. 20
    Current status of newborn screening for Pompe disease in Japan

    Current status of newborn screening for Pompe disease in Japan oleh Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura

    Diterbitkan 2021-12-01
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