Search Results - Hiroyuki Ishiura

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  1. 1
    Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints

    Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints by Hiroyuki Ishiura

    Published 2025
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  2. 2
    Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder

    Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP... by Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda

    Published 2023
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  3. 3
    JASPAC: Japan Spastic Paraplegia Research Consortium

    JASPAC: Japan Spastic Paraplegia Research Consortium by Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

    Published 2018
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  4. 4
    Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy

    Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy by Jun Mitsui, Takashi Matsukawa, Tsutomu Yasuda, Hiroyuki Ishiura, Shoji Tsuji

    Published 2016
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  5. 5
    <i>VPS13D</i>‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

    <i>VPS13D</i>‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia by Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama

    Published 2019
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  6. 6
    Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

    Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing by Koichiro Doi, Taku Monjo, Pham Huy Hoang, Jun Yoshimura, Hideaki Yurino, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Shoji Tsuji, Shinichi Morishita

    Published 2013
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  7. 7
    The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy

    The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy by Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano

    Published 2018
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  8. 8
    Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

    Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients by Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose

    Published 2013
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  9. 9
    C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

    C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan by Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, Sohei Yoshida, Tameko Kihira, Yasumasa Kokubo, Shigeki Kuzuhara, Laura P.W. Ranum, T Tamaoki, Yaeko Ichikawa, Hidetoshi Date, Jun Goto, Shoji Tsuji

    Published 2012
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  10. 10
    Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

    Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy by Masakazu Akahori, Kazushige Tsunoda, Yozo Miyake, Y. Fukuda, Hiroyuki Ishiura, Shoji Tsuji, Tomoaki Usui, Tetsuhisa Hatase, Makoto Nakamura, Hisao Ohde, Takeshi Itabashi, H. Okamoto, Yuichiro Takada, Takeshi Iwata

    Published 2010
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  11. 11
    Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations

    Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations by Jun Mitsui, Ken Koguchi, Toshimitsu Momose, M. Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin‐ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji

    Published 2017
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  12. 12
    The potential mechanism maintaining transactive response DNA binding protein 43kDa in the mouse stroke model

    The potential mechanism maintaining transactive response DNA binding protein 43kDa in the mouse stroke model by Yuting Bian, Yusuke Fukui, Ricardo Satoshi Ota-Elliott, Xinran Hu, Hongming Sun, Zhihong Bian, Yun Zhai, Haibo Yu, Xiao Hu, Hongyu An, Hongzhi Liu, Ryuta Morihara, Hiroyuki Ishiura, Toru Yamashita

    Published 2025
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  13. 13
    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 by 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

    Published 2014
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  14. 14
    A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

    A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia by Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, Nozomu Sato, Yoichiro Iikuni, Takamasa Majima, Kiyomi YAMANE, Takashi Irioka, Hiroyuki Ishiura, Koichiro Doi, Shinichi Morishita, Miwa Higashi, Teruhiko Sekiguchi, Kazuo Koyama, Naohisa Ueda, Yoshiharu Miura, Satoko Miyatake, Naomichi Matsumoto, Takanori Yokota, Fumiaki Tanaka, Shoji Tsuji, Hidehiro Mizusawa, Kinya Ishikawa

    Published 2015
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  15. 15
    Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

    Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 by Zhidong Cen, Zhengwen Jiang, You Chen, Xiaosheng Zheng, Fei Xie, Xiaodong Yang, Xingjiao Lu, Zhiyuan Ouyang, Hongwei Wu, Si Chen, Houmin Yin, Xia Qiu, Shuang Wang, Meiping Ding, Ye‐Lei Tang, Feng Yu, Caihua Li, Tao Wang, Hiroyuki Ishiura, Shoji Tsuji, Chuan Jiao, Chunyu Liu, Jianfeng Xiao, Wei Luo

    Published 2018
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  16. 16
    The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

    The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement by Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji

    Published 2012
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  17. 17
    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 by Gladys Montenegro, Adriana Rebelo, James W. Connell, Rachel Allison, Carla Babalini, M -A. D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene V. Strickland, Michael Gonzalez, Lisa Baumbach‐Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak‐Vance, Lüdger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

    Published 2012
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  18. 18
    Human genetic variation database, a reference database of genetic variations in the Japanese population

    Human genetic variation database, a reference database of genetic variations in the Japanese population by Koichiro Higasa, Noriko Miyake, Jun Yoshimura, K. Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen‐Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto, Fumihiko Matsuda

    Published 2016
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  19. 19
    Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

    Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy by Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Jun‐Hui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima

    Published 2018
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  20. 20
    Mutations in <i>MME</i> cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

    Mutations in <i>MME</i> cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2 by Yujiro Higuchi, Akihiro Hashiguchi, Jun‐Hui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun‐ichi Kira, Yasushi Oya, Hayato Yabe, Noriko Nishikawa, Shinsuke Tobisawa, Nozomu Matsuda, Masayuki Masuda, Chiharu Kugimoto, Kazuhiro Fukushima, Satoshi Yano, Jun Yoshimura, Koichiro Doi, Masanori Nakagawa, Shinichi Morishita, Shoji Tsuji, Hiroshi Takashima

    Published 2016
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