Torthaí cuardaigh - Satomi Mitsuhashi

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  1. 1
    Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy

    Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy de réir Hiroaki Mitsuhashi, Satomi Mitsuhashi, Taylor Lynn-Jones, Genri Kawahara, Louis M. Kunkel

    Foilsithe / Cruthaithe 2012
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  2. 2
    Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

    Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations de réir Mariko Okubo, Narihiro Minami, Kanako Goto, Yu‐ichi Goto, S. Noguchi, Satomi Mitsuhashi, Ichizo Nishino

    Foilsithe / Cruthaithe 2016
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  3. 3
    A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer

    A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer de réir Satomi Mitsuhashi, Kirill Kryukov, So Nakagawa, Junko S. Takeuchi, Yoshiki Shiraishi, Koichiro Asano, Tadashi Imanishi

    Foilsithe / Cruthaithe 2017
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  4. 4
    Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy

    Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy de réir Satomi Mitsuhashi, So Nakagawa, Mahoko Takahashi Ueda, Tadashi Imanishi, Martin C. Frith, Hiroaki Mitsuhashi

    Foilsithe / Cruthaithe 2017
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  5. 5
    A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative <i>DUX4</i>

    A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative <i>DUX4</i> de réir Mitsuru Sasaki‐Honda, Tatsuya Jonouchi, Meni Arai, Akitsu Hotta, Satomi Mitsuhashi, Ichizo Nishino, Ryoichi Matsuda, Hidetoshi Sakurai

    Foilsithe / Cruthaithe 2018
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  6. 6
    Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

    Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype de réir Wen‐Chen Liang, Wenhua Zhu, Satomi Mitsuhashi, S. Noguchi, Michael Sacher, Megumu Ogawa, Hsiang‐Hung Shih, Yuh‐Jyh Jong, Ichizo Nishino

    Foilsithe / Cruthaithe 2015
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  7. 7
    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan de réir Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori‐Yoshimura, Yukiko Hayashi, Satomi Mitsuhashi, S. Noguchi, En Kimura, Ichizo Nishino

    Foilsithe / Cruthaithe 2017
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  8. 8
    Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

    Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads de réir Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2019
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  9. 9
    Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

    Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy de réir Yukiko Hayashi, Chie Matsuda, Megumu Ogawa, Kanako Goto, Kayo Tominaga, Satomi Mitsuhashi, Young Eun Park, Ikuya Nonaka, Naomi Hino‐Fukuyo, Kazuhiro Haginoya, Hisashi Sugano, Ichizo Nishino

    Foilsithe / Cruthaithe 2009
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  10. 10
    Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy

    Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy de réir Satomi Mitsuhashi, Hideyuki Hatakeyama, Minako Karahashi, Tomoko Koumura, Ikuya Nonaka, Yukiko Hayashi, S. Noguchi, Roger B. Sher, Yasuhito Nakagawa, Giovanni Manfredi, Yu‐ichi Goto, Gregory A. Cox, Ichizo Nishino

    Foilsithe / Cruthaithe 2011
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  11. 11
    MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation

    MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation de réir Matthew S. Alexander, Genri Kawahara, Norio Motohashi, Juan Carlos Casar, Iris Eisenberg, Jennifer A. Myers, Molly Gasperini, Elicia Estrella, Alvin T. Kho, Satomi Mitsuhashi, Frederic Shapiro, Peter B. Kang, Louis M. Kunkel

    Foilsithe / Cruthaithe 2013
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  12. 12
    Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

    Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease de réir Naomi Tsuchida, Yohei Kirino, Yutaro Soejima, Masafumi Onodera, Katsuhiro Arai, Eiichiro Tamura, Takashi Ishikawa, Toshinao Kawai, Toru Uchiyama, Shigeru Nomura, Daisuke Kobayashi, Masataka Taguri, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hideaki Nakajima, Satoko Miyatake, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2019
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  13. 13
    Novel <i>SUZ12</i> mutations in Weaver‐like syndrome

    Novel <i>SUZ12</i> mutations in Weaver‐like syndrome de réir Eri Imagawa, Edoarda Vasco de Albuquerque Albuquerque, Bertrand Isidor, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Margaret Cristina da Silva Boguszewski, César Luiz Boguszewski, Antônio Marcondes Lerário, Mariana A. Funari, Alexander A.L. Jorge, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2018
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  14. 14
    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy

    Homozygous nonsense variant in <i>LRIF1</i> associated with facioscapulohumeral muscular dystrophy de réir Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J.L.F. Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, S. Noguchi, Yukiko Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M. van der Maarel

    Foilsithe / Cruthaithe 2020
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  15. 15
    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

    Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders de réir Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Nobuhiko Okamoto, Hirokazu Kurahashi, Nina Ekhilevitch, Masaaki Shiina, Gen Nishimura, Takashi Shibata, Muneaki Matsuo, Tae Ikeda, Kazuhiro Ogata, Naomi Tsuchida, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara, Hirotomo Saitsu, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2018
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  16. 16
    Complete sequencing of expanded <i>SAMD12</i> repeats by long-read sequencing and Cas9-mediated enrichment

    Complete sequencing of expanded <i>SAMD12</i> repeats by long-read sequencing and Cas9-mediated enrichment de réir Takeshi Mizuguchi, Tomoko Toyota, Satoko Miyatake, Satomi Mitsuhashi, Hiroshi Doi, Yosuke Kudo, Hitaru Kishida, Noriko Hayashi, Rie Tsuburaya, Masako Kinoshita, Tetsuhiro Fukuyama, Hiromi Fukuda, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Mitsuhiro Kato, Fumiaki Tanaka, Hiroaki Adachi, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2021
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  17. 17
    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States de réir Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang

    Foilsithe / Cruthaithe 2016
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  18. 18
    Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

    Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy de réir Satoko Miyatake, Satomi Mitsuhashi, Yukiko Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, K Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey A. Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2016
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  19. 19
    Biallelic structural variations within<i>FGF12</i>detected by long-read sequencing in epilepsy

    Biallelic structural variations within<i>FGF12</i>detected by long-read sequencing in epilepsy de réir Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenço, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, Martin C. Frith, Rie Seyama, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Kuniaki Saito, Atsushi Fujita, Naomichi Matsumoto

    Foilsithe / Cruthaithe 2023
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  20. 20
    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores de réir Steven E. Boyden, Lane J. Mahoney, Genri Kawahara, Jennifer A. Myers, Satomi Mitsuhashi, Elicia Estrella, Anna R. Duncan, Friederike Dey, Elizabeth T. DeChene, Jessica M. Blasko-Goehringer, Carsten G. Bönnemann, Basil T. Darras, Jerry R. Mendell, Hart G.W. Lidov, Ichizo Nishino, Alan H. Beggs, Louis M. Kunkel, Peter B. Kang

    Foilsithe / Cruthaithe 2012
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