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Naomichi Matsumoto

yokohama city university
H指数:85
被引数:3.8万

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Mitochondrial Dysfunction in Digenic TBP/STUB1 Spinocerebellar Ataxia

二基因TBP/STUB1脊髓小脑共济失调中的线粒体功能障碍

Movement Disorders Clinical Practice
IF2.7
2026-09-220
PRE
Kazuki Yamada MD; Shunsuke Ogata MD; Hiroaki Yaguchi MD, PhD; Shintaro Fujii MD; Taichi Nomura MD, PhD; Akihiko Kudo MD, PhD; Katsuki Eguchi MD, PhD; Hisashi Uwatoko MD, PhD; Shinichi Shirai MD, PhD; Ikuko Takahashi-Iwata MD, PhD; Masaaki Matsushima MD, PhD; Kohei Hamanaka MD, PhD; Satoko Miyatake MD, PhD; Ichizo Nishino MD, PhD; Yu-ichi Goto MD, PhD; Naomichi Matsumoto MD, PhD; Ichiro Yabe MD, PhD
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32

四例无血缘关系的常染色体隐性遗传脊髓小脑共济失调32型日本患者的临床特征

Journal of Human Genetics
IF2.5
2026-08-180
PRE
Hiromi Fukuda; Hiroshi Doi; Shunsuke Ogata; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Yuichi Higashiyama; Yosuke Kudo; Rumiko Kato; Takamasa Nukui; Kazuki Yamada; Shinichi Shirai; Ichiro Yabe; Naomichi Matsumoto; Fumiaki Tanaka
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation

N端CDC42 T43I变异体揭示了pyrin炎性小体的激活机制

Science Immunology
IF16.3
2026-08-070
PRE
Mariko Aoki; Alberto Iannuzzo; Philippe Mertz; Shouya Feng; Naoya Iwata; Chiara Perugini; Naomi Tsuchida; Rana El Masri; Yoshihiko Kuchitsu; Rachida Tacine; Simona Coppola; Hirofumi Shibata; Margaux Cescato; Masahiko Nishitani-Isa; Alexandre Terré; Yuri Kawasaki; Sarah Dalmon; Kenichi Nishimura; Flora Magnotti; Satoko Miyatake; Marc André; Keisuke Hamada; Jonathan London; Kazushi Izawa; Akira Niwa; Nobuhiko Okamoto; Kazuhiro Ogata; Masashi Nishikawa; Erika Zara; Megumu K. Saito; Marco Tartaglia; Shuichi Ito; Mathieu P. Rodero; Koh-ichi Nagata; Asma Smahi; Naomichi Matsumoto; Laurent Le Corre; Junko Takita; Guilaine Boursier; Atsushi Hijikata; Thomas Henry; Tomohiko Taguchi; Véronique Hentgen; Sophie Georgin-Lavialle; Yoshitaka Honda; Seth L. Masters; Takahiro Yasumi; Jérôme Delon
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations

SCA36型脊髓小脑共济失调的基因型分析表明不同人群中存在共享的允许性核心基因型

Journal of Human Genetics
IF2.5
2026-07-010
PRE
Katsuki Eguchi; Satoko Miyatake; Asako Takei; Hiroaki Yaguchi; Yuki Iida; Shinsuke Hamada; Yoshiko Ito; Sanae Honma; Fumio Moriwaka; Taishi Wada; Takashi Jono; Misako Kunii; Hiroyasu Komiya; Hitaru Kishida; Hiroshi Doi; Fumiaki Tanaka; Naomichi Matsumoto; Ichiro Yabe
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

TBK1-Associated原发性侧索硬化伴右侧颞叶变异型额颞痴呆

Annals of Clinical and Translational Neurology
IF3.9
2026-02-050
OAAI
Tomoyasu Matsubara; Naoki Kihara; Satoko Miyatake; Koji Fujita; Konoka Tachibana; Ryosuke Miyamoto; Hiroki Yamazaki; Yusuke Osaki; Nazere Keyoumu; Yuki Kuwano; Nobutoshi Morimoto; Suzuran Saito; Eriko Koshimizu; Yoichi Otomi; Kenji Ishibashi; Masafumi Harada; Naomichi Matsumoto; Hiroyuki Morino; Yuishin Izumi
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

单等位基因和双等位基因RNU4-2变异在神经发育障碍中的作用

Journal of Human Genetics
IF2.5
2025-12-170
PRE
Yukina Hayashi; Kenta Kajiwara; Seiji Mizuno; Nobuhiko Okamoto; Mei Yan Chan; Tomohide Goto; Seiichi Hayakawa; Mitsuhiro Kato; Chong Ae Kim; Dorit Lev; Lip Hen Moey; Juliet Taylor; Nerine Gregersen; Ifat Nezer-Kaner; Wee Teik Keng; Satoshi Okada; Hitoshi Osaka; Tally Sagie; Yasunari Sakai; Katsuya Tashiro; Patrick Yap; Li Fu; Kazuhiro Iwama; Qiaowei Liang; Naoto Nishimura; Suzuran Saito; Masamune Sakamoto; Yasuhiro Utsuno; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Fujita; Naomichi Matsumoto
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

更正：新型复合杂合ABCA2变异导致IDPOGSA，一种具有智力障碍的变异表型综合征。

Journal of Human Genetics
IF2.5
2025-11-100
PRE
Yuta Inoue; Naomi Tsuchida; Chong Ae Kim; Bruno de Oliveira Stephan; Matheus Augusto Araujo Castro; Rachel Sayuri Honjo; Debora Romeo Bertola; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study

日本VEXAS综合征患者对糖皮质激素的高度依赖和有限的治疗反应: 一项多中心回顾性研究

MODERN RHEUMATOLOGY
IF1.9
2025-11-010
PRE
Maeda, Ayaka; Kirino, Yohei; Tsuchida, Naomi; Uchiyama, Yuri; Kobayashi, Daisuke; Asano, Tomoyuki; Ito, Yuji; Katsuo, Kosuke; Kato, Ayaka; Mori, Ichiro; Yamaguchi, Hiroyuki; Shimizu, Toshimasa; Kobayashi, Satoshi; Kishimoto, Mitsumasa; Oda, Nobuhiro; Rokutanda, Ryo; Nagahata, Ken; Fujiwara, Hiroshi; Kobayashi, Hiroshi; Takeuchi, Yoichi; Hagiyama, Hiroyuki; Umeda, Naoki; Uchino, Kaori; Miyoshi, Yuji; Hidaka, Yukiko; Ida, Hiroaki; Akasaka, Keiichi; Kashino, Kaori; Yoshida, Yusuke; Ohnishi, Hidenori; Takahashi, Noriyuki; Fujieda, Yuichiro; Horita, Nobuyuki; Takase-Minegishi, Kaoru; Matsumoto, Naomichi; Nakajima, Hideaki
Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3

一名患有神经元蜡样脂褐质沉积症3型的日本男孩出现持续性淋巴细胞减少。

EUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
2025-11-010
OAAI
Kajiwara, Kenta; Liang, Qiaowei; Uchiyama, Yuri; Chong, Pin Fee; Ichimiya, Yuko; Monji, Norihisa; Shimokawa, Sakurako; Sonoda, Motoshi; Watanabe, Eriko; Sakata, Ayumi; Sonoda, Yuri; Akamine, Satoshi; Ishimura, Masataka; Murakami, Yusuke; Kunisaki, Yuya; Sonoda, Koh-Hei; Matsumoto, Naomichi; Sakai, Yasunari; Ohga, Shouichi
Reply to Letter to the Editor regarding the article “SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications”

回复致编辑的信，关于文章“SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications”

Epilepsia Open
IF2.9
2025-10-230
OAAI
Yoko Kobayashi Takahashi; Kenshiro Tabata; Shimpei Baba; Eri Takeshita; Noriko Sumitomo; Yuko Shimizu-Motohashi; Takashi Saito; Eiji Nakagawa; Atsushi Ishii; Shinichi Hirose; Mitsuhiro Kato; Naomichi Matsumoto; Hirofumi Komaki; Ken Inoue
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异通过损害突触功能导致神经发育综合征

Nature Genetics
IF29
2025-10-220
OAAI
Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

研究方向

暂未获取到该数据
N
Noriko Miyake
H 指数:69论文数:784被引数:1.9万
H
Hirotomo Saitsu
H 指数:69论文数:685被引数:1.8万
S
Satoko Miyatake
H 指数:49论文数:282被引数:8,228
M
Mitsuhiro Kato
H 指数:62论文数:389被引数:1.3万
T
Takeshi Mizuguchi
H 指数:47论文数:232被引数:8,256
M
Mitsuko Nakashima
H 指数:59论文数:302被引数:1.1万
A
Atsushi Fujita
H 指数:36论文数:240被引数:4,507
Y
Yoshinori Tsurusaki
H 指数:56论文数:216被引数:1.0万
E
Eriko Koshimizu
H 指数:34论文数:129被引数:3,816
Y
Yuri Uchiyama
H 指数:28论文数:144被引数:2,231