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S

S. Noguchi

National Center of Neurology and Psychiatry

68H指数
567论文数
2.2W被引数
收录论文 115
发表时间
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MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1MBNL耗竭驱动肌萎缩侧索硬化症1型中的干细胞融合和不成熟肌核状态
errNature Communications
IF15.7
err2026-08-06
err0
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
err分享
err收藏
Whole-Body Muscle Computed Tomography Study of Desminopathy—A Case Series全身肌肉计算机断层扫描研究——结蛋白病病例系列
errMUSCLE & NERVE
IF3.1
err2026-05-09
err0
PREAI
errFrancia Victoria A. De Los Reyes; Shinichiro Hayashi; Satoru Noguchi; Ichizo Nishino
err分享
err收藏
A novel selective stabilizer of the ryanodine receptor 2 prevents stress-induced ventricular arrhythmias without impairing cardiac function一种新型的ryanodine受体2选择性稳定剂可预防压力诱导的室性心律失常而不影响心脏功能
errBritish Journal of Pharmacology
IF7.7
err2026-04-27
err0
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
err分享
err收藏
Spatiotemporal Patterns of Fat Replacement in SELENON-Related Myopathy: A Whole-Body Imaging Study硒蛋白N相关肌病中脂肪替代的空间时间模式：一项全身成像研究
errMUSCLE & NERVE
IF3.1
err2026-04-13
err0
PREAI
errRui Shimazaki; Satoru Noguchi; Wakako Yoshioka; Hotake Takizawa; Yasushi Oya; Yuji Takahashi; Noriko Sato; Yukio Kimura; Shinichiro Hayashi; Ichizo Nishino
err分享
err收藏
Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status眼咽远端肌病中的致病性CGG扩增在侧翼序列上显示出每个致病基因的独特特征以及甲基化状态
errGenome Medicine
IF11.2
err2026-03-27
err0
errOAAI
errNobuyuki Eura; Satoru Noguchi; Megumu Ogawa; Kyuto Sonehara; Ai Yamanaka; Takashi Kurashige; Shinichiro Hayashi; Yukinori Okada; Kazuma Sugie; Ichizo Nishino
err分享
err收藏
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cellsSNUPN变体通过破坏小脑浦肯野细胞的全局剪接引起脊髓小脑性共济失调
errBrain
IF11.7
err2026-02-01
err0
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
err分享
err收藏
Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery-Dreifuss Muscular Dystrophy Caused by EMD VariantsEmery–Dreifuss肌营养不良症由EMD变异引起的骨骼肌成像特征及其与临床发现的关联
errMUSCLE & NERVE
IF3.1
err2026-01-01
err1
PREAI
errShimazaki, Rui; Noguchi, Satoru; Hayashi, Shinichiro; Nishino, Ichizo
err分享
err收藏
Muscle imaging of the patients with RYR1-related myopathies and its significance to clinical featuresRYR1相关肌病患者的肌肉成像及其对临床特征的意义
errNeuromuscular Disorders
IF2.8
err2025-11-06
err0
PREAI
errRui Shimazaki; Satoru Noguchi; Wakako Yoshioka; Hotake Takizawa; Yuji Takahashi; Shinichiro Hayashi; Ichizo Nishino
err分享
err收藏
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1-Related Myopathies骨骼肌脂肪替代在FHL1相关肌病中的时间与空间分布
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2025-11-01
err0
errOAAI
errShimazaki, Rui; Noguchi, Satoru; Takizawa, Hotake; Oya, Yasushi; Takahashi, Yuji; Komaki, Hirofumi; Arahata, Hajime; Hayashi, Shinichiro; Nishino, Ichizo
err分享
err收藏
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances解析GNE肌病：从分子基础到治疗进展
errANNALS OF INDIAN ACADEMY OF NEUROLOGY
IF1.8
err2025-10-01
err0
PREAI
errYoshioka, Wakako; Noguchi, Satoru; Nishino, Ichizo
err分享
err收藏
Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease建立具有种系传递的第二代转基因狨猴，以模拟多聚谷氨酰胺疾病
errDISEASE MODELS & MECHANISMS
IF3.3
err2025-10-01
err0
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
err分享
err收藏
Molecular genetics and therapeutic development for GNE myopathyGNE肌病的分子遗传学与治疗开发
errJournal of Human Genetics
IF2.5
err2025-09-05
err0
PREAI
errWakako Yoshioka; Satoru Noguchi; Ichizo Nishino
err分享
err收藏
Substitutions of nucleotides at the 3′ ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategiesCOL6A1/2/3外显子3′末端的核苷酸替换会诱导外显子跳读，这与VI型胶原相关肌营养不良症及治疗策略相关。
errGENETICS IN MEDICINE
IF6.2
err2025-07-01
err0
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
err分享
err收藏
Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis抗线粒体M2抗体阳性肌炎可能是一种独立的自身免疫性肌炎亚型
errJOURNAL OF NEUROLOGY
IF4.6
err2025-02-15
err0
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
err分享
err收藏
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-01-04
err0
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
err分享
err收藏
A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review
errNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
err2024-08-01
err0
PREAI
errEl Sherif, Rasha; Saito, Yoshihiko; Hussein, Rasha S.; Izu, Yayoi; Koch, Manuel; Noguchi, Satoru; Nishino, Ichizo
err分享
err收藏
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD
errNEUROLOGY-GENETICS
IF3.7
err2024-04-01
err0
errOAAI
errEl Sherif, Rasha; Saito, Yoshihiko; Awaya, Tomonari; Noguchi, Satoru; Nishino, Ichizo
err分享
err收藏
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2023-09-01
err4
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
err分享
err收藏
Muscle pathology of antisynthetase syndrome according to antibody subtypes
errBRAIN PATHOLOGY
IF6.2
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
err分享
err收藏
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
errSCIENTIFIC REPORTS
IF3.9
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
err分享
err收藏

研究方向

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