Arama Sonuçları - Kayoko Saito

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  1. 1
    A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

    A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing Yazar: Yuji Kubo, Hisahide Nishio, Kayoko Saito

    Baskı/Yayın Bilgisi 2015
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  2. 2
    Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

    Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype Yazar: Akiko Abe, Chikahiko Numakura, Kayoko Saito, Hiroyoshi Koide, Nobuyuki Oka, Akira Honma, Yumiko Kishikawa, Kiyoshi Hayasaka

    Baskı/Yayın Bilgisi 2009
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  3. 3
    Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy

    Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy Yazar: Hidemi Kajimoto, Keiko Ishigaki, Kenichi Okumura, Hirofumi Tomimatsu, Makoto Nakazawa, Kayoko Saito, Makiko Ōsawa, Toshio Nakanishi

    Baskı/Yayın Bilgisi 2006
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  4. 4
    Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

    Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy Yazar: Elizabeth Kichula, Crystal M. Proud, Michelle A. Farrar, Jennifer M. Kwon, Kayoko Saito, Isabelle Desguerre, Hugh J. McMillan

    Baskı/Yayın Bilgisi 2021
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  5. 5
    Novel Mutations and Genotype-Phenotype Relationships in 107 Families With Fukuyama-Type Congenital Muscular Dystrophy (FCMD)

    Novel Mutations and Genotype-Phenotype Relationships in 107 Families With Fukuyama-Type Congenital Muscular Dystrophy (FCMD) Yazar: Eri Kondo-Iida, Kazuhiro Kobayashi, Masao Watanabe, Junichi Sasaki, Toshiyuki Kumagai, Hiroyoshi Koide, Kayoko Saito, Masatake Osawa, Yusuke Nakamura, Tatsushi Toda

    Baskı/Yayın Bilgisi 1999
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  6. 6
    Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

    Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses Yazar: Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Masao Watanabe, Murata Miho, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto, Shoji Tsuji

    Baskı/Yayın Bilgisi 2014
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  7. 7
    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

    Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification Yazar: Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais

    Baskı/Yayın Bilgisi 2023
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  8. 8
    Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

    Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions Yazar: Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, Taeko Kikuchi, Yoshibumi Nakane, Nobumasa Kato, Miyuki Sadamatsu, Tohru Konishi, Shinichiro Nagamitsu, Masato Matsuura, Ayako Yasuda, Maki Komine, Kazuaki Kanai, Takeshi Inoue, Toshio Osamura, Kayoko Saito, Shinichi Hirose, Hiroyoshi Koide, Hiroaki Tomita, Hiroki Ozawa, Norio Niikawa, Naohiro Kurotaki

    Baskı/Yayın Bilgisi 2012
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  9. 9
    Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

    Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) Yazar: Maryam Oskoui, John Day, Nicolas Deconinck, Elena Mazzone, A. Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera‐Pruszczyk, Laurent Servais, G. Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martín, Tammy McIver, R. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri

    Baskı/Yayın Bilgisi 2023
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  10. 10
    Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

    Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry Yazar: Laurent Servais, John Day, Darryl C. De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M. Proud, Perry B. Shieh, Eduardo F. Tizzano, Susana Quijano‐Roy, Isabelle Desguerre, Kayoko Saito, Eric Faulkner, K. Benguerba, Dheeraj Raju, Nicole LaMarca, Rui Sun, Frederick A. Anderson, Richard S. Finkel

    Baskı/Yayın Bilgisi 2024
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  11. 11
    Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

    Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy Yazar: Richard S. Finkel, Eugenio Mercuri, Basil T. Darras, Anne M. Connolly, Nancy L. Kuntz, Janbernd Kirschner, Claudia A. Chiriboga, Kayoko Saito, Laurent Servais, Eduardo F. Tizzano, Haluk Topaloğlu, M. Tulinius, Jacqueline Montes, Allan M. Glanzman, Kathie M. Bishop, Zhensbao Zhong, Sarah Gheuens, C. Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C. De Vivo

    Baskı/Yayın Bilgisi 2017
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  12. 12
    Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

    Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation Yazar: Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Taku Nakagawa, Takanari Fujii, Kenji Sugai, Kaoru S. Imai, Tami Uster, David Chitayat, Shelly K. Weiss, Hirofumi Kashii, Ryosuke Kusano, Ayumi Matsumoto, Kazuyuki Nakamura, Yoshinobu Oyazato, Mari Maeno, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kayoko Saito, Kiyoshi Hayasaka, Naomichi Matsumoto, Hirotomo Saitsu

    Baskı/Yayın Bilgisi 2013
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  13. 13
    Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

    Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy Yazar: Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga, John Day, Craig Campbell, Anne M. Connolly, Susan T. Iannaccone, Janbernd Kirschner, Nancy L. Kuntz, Kayoko Saito, Perry B. Shieh, M. Tulinius, Elena Mazzone, Jacqueline Montes, Kathie M. Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C. Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C. De Vivo, Richard S. Finkel

    Baskı/Yayın Bilgisi 2018
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  14. 14
    Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

    Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial Yazar: Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher‐Wisniewski, Bryan E. McGill, Thomas A. Macek

    Baskı/Yayın Bilgisi 2022
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  15. 15
    Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

    Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, ran... Yazar: Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yôko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maéno, Kiyonobu Komai, Tetsuhiko Ikeda, Yuka Ishikawa, Shinichiro Maeshima, Masashi Aoki, Michiya Ito, Tatsuya Mima, Toshihiko Miura, Jun Matsuda, Yumiko Kawaguchi, Tomohiro Hayashi, Masahiro Shingu, Hiroaki Kawamoto

    Baskı/Yayın Bilgisi 2021
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  16. 16
    Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

    Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial Yazar: Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher‐Wisniewski, Bryan E. McGill, Thomas A. Macek

    Baskı/Yayın Bilgisi 2022
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  17. 17
    CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis

    CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis Yazar: Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki Nakayama, Hidefumi Ito, Masataka Nakamura, Kayoko Saito, Yuichi Riku, Yasushi Iwasaki, Hirofumi Maruyama, Yoko Aoki, Ichizo Nishino, Yuishin Izumi, Masashi Aoki, Hideshi Kawakami

    Baskı/Yayın Bilgisi 2023
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  18. 18
    Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

    Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study Yazar: Claude Cancès, D. Vlodavets, Giacomo P. Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, R. Scalco, Basil T. Darras, Katia Alberti, Giovanni Baranello, Nina Barišić, Noemi Brolatti, Claudio Bruno, Claude Cancès, Giacomo P. Comi, Basil T. Darras, Nicolas Deconinck, Elke De Vos, Liesbeth De Waele, Angela Dodman, Claudia Dosi, Muna El-Khairi, Amanda Engelbrekt, Nathalie Goemans, Ksenija Gorni, Alessandra Govoni, Isaac Gravestock, Kazuhiro Haginoya, Janine Hoffart, Katarzyna Kotulska, Laure Le Goff, Alexis Levine, Saidi Manel, Riccardo Masson, Chiara Mastella, Eleonora Mauri, Maria Mazurkiewicz-Bełdzińska, Megi Meneri, Isabella Moroni, Katarzyna Pierzchlewicz, Aurélie Portefaix, A. Prufer, Myriam Rauso, Kayoko Saito, R. Scalco, Veronica Schembri, Mariangela Sicolo, Valentine Tahon, Josipa Tomas, Dominique Vincent-Genod, D. Vlodavets, Carole Vuillerot, Kazuyuki Yotsumata, Edmar Zanoteli

    Baskı/Yayın Bilgisi 2022
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  19. 19
    Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population

    Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population Yazar: Taisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, Yoshiaki Yamamoto, Tetsumasa Kamei, Tohru Hoshida, Katsuya Takeuchi, Kotaro Otsuka, Mitsutoshi Okazaki, Masako Watanabe, Kousuke Kanemoto, Tomohiro Oshima, Atsushi Watanabe, Shiro Minami, Kayoko Saito, Hisashi Tanii, Yasushi Shimo, Minoru Hara, Shinji Saitoh, Toshihiko Kinoshita, Masaki Kato, Naoto Yamada, Naoki Akamatsu, Toshihiko Fukuchi, Shigenobu Ishida, Shingo Yasumoto, Atsushi Takahashi, Takeshi Ozeki, Takahisa Furuta, Yoshiro Saito, Nobuyuki Izumida, Yoko Kano, Tetsuo Shiohara, Michiaki Kubo

    Baskı/Yayın Bilgisi 2018
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  20. 20
    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome Yazar: Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko‐ichiro Yoshiura, Naomichi Matsumoto, Norio Niikawa

    Baskı/Yayın Bilgisi 2013
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