Satoru Noguchi

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 22

Top Venues

Acta neuropathologica

Neurology. Genetics

Neurology

Human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurology. Genetics 10 (2) (2024)
Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C Weihl, Takayoshi Inoue, Ichizo Nishino
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta neuropathologica 145 (2) (2022)
Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C Weihl, Takayoshi Inoue, Ichizo Nishino
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta neuropathologica 145 (2) (2022)
Kotaro Oyama, Vadim E Zeeb, Toshiko Yamazawa, Nagomi Kurebayashi, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Hideto Oyamada, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Yoshie Harada, Norio Fukuda, Shin'ichi Ishiwata, Madoka Suzuki
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating. Proceedings of the National Academy of Sciences of the United States of America 119 (32) (2022)
Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C Weihl, Takayoshi Inoue, Ichizo Nishino
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta neuropathologica (2022)
Kenshiro Fujise, Satoru Noguchi, Tetsuya Takeda
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants. International journal of molecular sciences 23 (11) (2022)
Yoshitaka Tsuboi, Kotaro Oyama, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Nagomi Kurebayashi, Toshiaki Tachibana, Yoshinobu Manome, Emi Kikuchi, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Shuichi Mori, Ryosuke Ishida, Hiroyuki Kagechika, Madoka Suzuki, Norio Fukuda, Toshiko Yamazawa
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes. The Journal of general physiology 154 (11) (2022)
Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Dae-Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, Shinichiro Hayashi, Yuichi Goto, Satoru Noguchi, Ichizo Nishino
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing. Journal of translational medicine 20 (1) (2022)
Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C Weihl, Takayoshi Inoue, Ichizo Nishino
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta neuropathologica 145 (2) (2022)
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Human genetics (2022)
Michio Inoue, Satoru Noguchi, Yukiko U Inoue, Aritoshi Iida, Megumu Ogawa, Rocio Bengoechea, Sara K Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yuji Takahashi, Hiroaki Miyajima, Conrad C Weihl, Takayoshi Inoue, Ichizo Nishino
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta neuropathologica (2022)
Toshiko Yamazawa, Takuya Kobayashi, Nagomi Kurebayashi, Masato Konishi, Satoru Noguchi, Takayoshi Inoue, Yukiko U Inoue, Ichizo Nishino, Shuichi Mori, Hiroto Iinuma, Noriaki Manaka, Hiroyuki Kagechika, Arkady Uryash, Jose Adams, Jose R Lopez, Xiaochen Liu, Christine Diggle, Paul D Allen, Sho Kakizawa, Keigo Ikeda, Bangzhong Lin, Yui Ikemi, Kazuto Nunomura, Shinsaku Nakagawa, Takashi Sakurai, Takashi Murayama
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke. Nature communications 12 (1) (2021)
Yukako Nishimori, Aritoshi Iida, Masashi Ogasawara, Mariko Okubo, Yuki Yonenobu, Makoto Kinoshita, Kazuma Sugie, Satoru Noguchi, Ichizo Nishino
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis. Neurology. Genetics 8 (1) (2021)
Kenshiro Fujise, Mariko Okubo, Tadashi Abe, Hiroshi Yamada, Kohji Takei, Ichizo Nishino, Tetsuya Takeda, Satoru Noguchi
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy. Human mutation (2021)
Michio Inoue, Satoru Noguchi, Kyuto Sonehara, Keiko Nakamura-Shindo, Akira Taniguchi, Hiroyuki Kajikawa, Hisayoshi Nakamura, Keiko Ishikawa, Megumu Ogawa, Shinichiro Hayashi, Yukinori Okada, Satoshi Kuru, Aritoshi Iida, Ichizo Nishino
A recurrent homozygous ACTN2 variant associated with core myopathy. Acta neuropathologica 142 (4) (2021)
Jantima Tanboon, Michio Inoue, Yoshihiko Saito, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Hanako Koguchi-Yoshioka, Manabu Fujimoto, Ichizo Nishino
Dermatomyositis: Muscle Pathology According to Antibody Subtypes. Neurology (2021)
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino, Satoru Noguchi
Causative variant profile of collagen VI-related dystrophy in Japan. Orphanet journal of rare diseases 16 (1) (2021)
Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. Human genetics 139 (2) (2020)
Jantima Tanboon, Michio Inoue, Shinya Hirakawa, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Shigeaki Suzuki, Hanako Koguchi-Yoshioka, Manabu Fujimoto, Ichizo Nishino
Pathologic Features of Anti-Mi-2 Dermatomyositis. Neurology 96 (3) (2020)
Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. Molecular genetics & genomic medicine 7 (5) (2019)
Ikuo Tomioka, Hidetoshi Ishibashi, Eiko N Minakawa, Hideyuki H Motohashi, Osamu Takayama, Yuko Saito, H Akiko Popiel, Sandra Puentes, Kensuke Owari, Terumi Nakatani, Naotake Nogami, Kazuhiro Yamamoto, Satoru Noguchi, Takahiro Yonekawa, Yoko Tanaka, Naoko Fujita, Hikaru Suzuki, Hisae Kikuchi, Shu Aizawa, Seiichi Nagano, Daisuke Yamada, Ichizo Nishino, Noritaka Ichinohe, Keiji Wada, Shinichi Kohsaka, Yoshitaka Nagai, Kazuhiko Seki
Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms. eNeuro 4 (2) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Satoru Noguchi