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S

S. Noguchi

National Center of Neurology and Psychiatry

68H-index
567Paper Count
2.2WCitation Count
Published Papers 115
Publication Date
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1
err2026-08-06
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errOAAI
errVanessa Todorow; Xavière Lornage; Shinichiro Hayashi; Fiorella Carla Grandi; Zoé Clerc; Jeanne Lainé; Michel Ney; Mégane Lemaitre; Corentin Rouxel; Maria Kondili; Piera Smeriglio; Hanseul Oh; Mie Kato; Nobuyuki Eura; Yoshihiko Saito; Francia Victoria A. De Los Reyes; Satoru Noguchi; Benedikt Schoser; Denis Furling; Ichizo Nishino; Peter Meinke; Frédérique Rau
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Whole-Body Muscle Computed Tomography Study of Desminopathy—A Case Series
err2026-05-09
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PREAI
errFrancia Victoria A. De Los Reyes; Shinichiro Hayashi; Satoru Noguchi; Ichizo Nishino
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A novel selective stabilizer of the ryanodine receptor 2 prevents stress-induced ventricular arrhythmias without impairing cardiac function
err2026-04-27
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errOAAI
errNagomi Kurebayashi; Masami Kodama; Hana Inoue; Masato Konishi; Masami Sugihara; Takashi Murayama; Ryosuke Ishida; Koichiro Ishii; Shuichi Mori; Yukari Endo; Xi Zeng; Yukiko U. Inoue; Takayoshi Inoue; Satoru Noguchi; Hajime Nishio; Eri Nakashima; Norio Suzuki; Noriko Nakaya; Ryushi Sato; Yuya Otori; Ayuna Tsutsumi; Mirei Takahashi; Takayuki Oka; Haruo Ogawa; Kayoko Kanamitsu; Hiroyuki Kusuhara; Utako Yokoyama; Junko Kurokawa; Hiroyuki Kagechika; Takashi Sakurai
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Spatiotemporal Patterns of Fat Replacement in SELENON-Related Myopathy: A Whole-Body Imaging Study
err2026-04-13
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PREAI
errRui Shimazaki; Satoru Noguchi; Wakako Yoshioka; Hotake Takizawa; Yasushi Oya; Yuji Takahashi; Noriko Sato; Yukio Kimura; Shinichiro Hayashi; Ichizo Nishino
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Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status
err2026-03-27
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errOAAI
errNobuyuki Eura; Satoru Noguchi; Megumu Ogawa; Kyuto Sonehara; Ai Yamanaka; Takashi Kurashige; Shinichiro Hayashi; Yukinori Okada; Kazuma Sugie; Ichizo Nishino
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SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells
errBrain
IF11.7
err2026-02-01
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PREAI
errOkubo, Mariko; Ogawa, Megumu; Eura, Nobuyuki; Inoue, Yukiko U.; Dewa, Ken-ichi; Owa, Tomoo; Miyashita, Satoshi; Murakami, Terumi; Nakamura, Hisayoshi; Hayashi, Shinichiro; Nonaka, Ikuya; Ogata, Katsuhisa; Hoshino, Mikio; Inoue, Takayoshi; Nishino, Ichizo; Noguchi, Satoru
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Muscle imaging of the patients with RYR1-related myopathies and its significance to clinical features
err2025-11-06
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PREAI
errRui Shimazaki; Satoru Noguchi; Wakako Yoshioka; Hotake Takizawa; Yuji Takahashi; Shinichiro Hayashi; Ichizo Nishino
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Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies
err2025-11-01
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errOAAI
errShimazaki, Rui; Noguchi, Satoru; Takizawa, Hotake; Oya, Yasushi; Takahashi, Yuji; Komaki, Hirofumi; Arahata, Hajime; Hayashi, Shinichiro; Nishino, Ichizo
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Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances
err2025-10-01
err0
PREAI
errYoshioka, Wakako; Noguchi, Satoru; Nishino, Ichizo
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Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease
err2025-10-01
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errOAAI
errMinakawa, Eiko N.; Owari, Kensuke; Nogami, Naotake; Nakatani, Terumi; Koizumi, Masashi; Kawanobe, Akiyo; Saga, Yosuke; Kudo, Moeko; Noguchi, Satoru; Hanakawa, Takashi; Hori, Yuki; Numazawa, Hidemi; Takeuchi, Toshihide; Katakai, Yuko; Saito, Ryoichi; Nagai, Yoshitaka; Saito, Yuko; Tomioka, Ikuo; Seki, Kazuhiko
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Molecular genetics and therapeutic development for GNE myopathy
err2025-09-05
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PREAI
errWakako Yoshioka; Satoru Noguchi; Ichizo Nishino
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Substitutions of nucleotides at the 3′ ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies
err2025-07-01
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PREAI
errLee, Seung-Ah; Ogawa, Megumu; Saito, Yoshihiko; Shimazaki, Rui; Awaya, Tomonari; Hosokawa, Motoyasu; Kurosawa, Ryo; Ohara, Hiroaki; Takeuchi, Akihide; Hayashi, Shinichiro; Goto, Yu-ichi; Hagiwara, Masatoshi; Nishino, Ichizo; Noguchi, Satoru
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Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis
err2025-02-15
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PREAI
errNishimori, Yukako; Tanboon, Jantima; Oyama, Munenori; Motegi, Haruhiko; Tomo, Yui; Oba, Mari; Yamanaka, Ai; Sugie, Kazuma; Suzuki, Shigeaki; Hayashi, Shinichiro; Noguchi, Satoru; Nishino, Ichizo
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Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
err2025-01-04
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errOAAI
errShimazaki, Rui; Saito, Yoshihiko; Awaya, Tomonari; Minami, Narihiro; Kurosawa, Ryo; Hosokawa, Motoyasu; Ohara, Hiroaki; Hayashi, Shinichiro; Takeuchi, Akihide; Hagiwara, Masatoshi; Hayashi, Yukiko K.; Noguchi, Satoru; Nishino, Ichizo
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A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review
err2024-08-01
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PREAI
errEl Sherif, Rasha; Saito, Yoshihiko; Hussein, Rasha S.; Izu, Yayoi; Koch, Manuel; Noguchi, Satoru; Nishino, Ichizo
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Branchpoints as potential targets of exon-skipping therapies for genetic disorders
err2023-09-01
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errOAAI
errOhara, Hiroaki; Hosokawa, Motoyasu; Awaya, Tomonari; Hagiwara, Atsuko; Kurosawa, Ryo; Sako, Yukiya; Ogawa, Megumu; Ogasawara, Masashi; Noguchi, Satoru; Goto, Yuichi; Takahashi, Ryosuke; Nishino, Ichizo; Hagiwara, Masatoshi
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Muscle pathology of antisynthetase syndrome according to antibody subtypes
err2023-03-07
err20
errOAAI
errTanboon, Jantima; Inoue, Michio; Hirakawa, Shinya; Tachimori, Hisateru; Hayashi, Shinichiro; Noguchi, Satoru; Okiyama, Naoko; Fujimoto, Manabu; Suzuki, Shigeaki; Nishino, Ichizo
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Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
err2022-12-16
err7
errOAAI
errYoshioka, Wakako; Iida, Aritoshi; Sonehara, Kyuto; Yamamoto, Kazuki; Oya, Yasushi; Mori-Yoshimura, Madoka; Kurashige, Takashi; Okubo, Mariko; Ogawa, Megumu; Matsuda, Fumihiko; Higasa, Koichiro; Hayashi, Shinichiro; Nakamura, Harumasa; Sekijima, Masakazu; Okada, Yukinori; Noguchi, Satoru; Nishino, Ichizo
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