Suchergebnisse - Manami Akasaka

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  1. 1
    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) von Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka

    Veröffentlicht 2007
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  2. 2
    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases von Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Vida Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lāce, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krūmiņa, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El‐Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Júlia Baptista, Adam C. Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais Hashem, Hesham Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau

    Veröffentlicht 2019
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  3. 3
    Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

    Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses von Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch’ng, Keng Wee Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin‐ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto

    Veröffentlicht 2020
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  4. 4
    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy von Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu‐Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Çinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

    Veröffentlicht 2022
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  5. 5
    Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August–December 2015

    Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August–Decem... von Pin Fee Chong, Ryutaro Kira, Harushi Mori, Akihisa Okumura, Hiroyuki Torisu, Sawa Yasumoto, Hiroyuki Shimizu, Tsuguto Fujimoto, Nozomu Hanaoka, Susumu Kusunoki, Toshiyuki Takahashi, Kazunori Oishi, Keiko Tanaka‐Taya, Etsushi Toyofuku, Tetsuhiro Fukuyama, Tatsuharu Sato, Yuya Takahashi, Akane Kanazawa, Masato Hiyane, Takao Fukushima, Taira Toki, Ryoko Hayashi, Sonoko Kubota, Wakako Ishii, Manami Akasaka, Haruna Miyazawa, Mitsuo Motobayashi, Mari Asaoka, Takashi Shiihara, Yoshitaka Miyoshi, Tomohiko Tsuru, Kenta Ikeda, Masaru Matsukura, Ryôkô Nakamura, Kengo Moriyama, Yuji Sugawara, Yuichi Takami, Takako Fujita, Tamami Yano, Mariko Kasai, Takashi Uchida, Masashi Fujita, Mitsugu Uematsu, Atsuko Hata, Hideto Ogata, Tomoyuki Miyamoto, Kataharu Sumi, Yu Ishida, Eri Takeshita, Tomoya Kawazoe, Takayoshi Kawabata, Chiharu Miyatake, Akiko Yakuwa, Yu Kakimoto, Hiroshi Terashima, Masaya Kubota, Yuichi Abe, Michiaki Nagura, Hideo Yamanouchi, Satomi Mori, Yukihiko Konishi, Mariko Ikegami, Yuko Tomonaga, Yumiko Takashima, Kazushi Ichikawa, Nobuko Moriyama, Chizu Oba, Mitsuru Kashiwagi, Sosuke Yoshikawa, Kenichi Tanaka, Genrei Ohta, Ayako Hattori, Daisuke Ieda, Sahoko Ono, Tomoshige Tanimura, Kyoko Ban, Nobuyoshi Sugiyama, Nozomi Kouzan, Yuki Yamada, Mika Inoue, Kenichi Sakajiri, Ken Ohyama, Miho Yamamuro, Hidetoshi Ishigaki, Azusa Seino, Shuichi Igarashi, Takahito Nakamoto, K. Sugimoto, Mitsuhiro Ochi, Eri Hamanaka, Kazuki Ohi, Hidefumi Kawasaki, Masahiko Nishitani, Hiroshi Uno, Masaru Inoue, Mai Okuyama, A. Yamamoto, Ryota Sato, Norihiko Azuma, Sakiko Mabuchi

    Veröffentlicht 2017
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