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Shoji Tsuji

Institute of Medical Genomics

95H指数
848论文数
3.8W被引数
收录论文 276
发表时间
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Reversible exacerbation of parkinsonism during epirubicin–cyclophosphamide chemotherapy in a patient with PTEN hamartoma tumor syndrome and young-onset Parkinson’s diseasePTEN错构瘤肿瘤综合征合并青年发病帕金森病患者在表柔比星–环磷酰胺化疗期间帕金森症状的可逆性加重
errNeurological Sciences
IF2.4
err2026-09-11
err0
PREAI
errNobuaki Wakamatsu; Shoko Norimura; Misako Nakagawa; Akihiro Hirao; Mao Mukai; Yoshiteru Urai; Tatsushi Toda; Shoji Tsuji; Jun Mitsui
err分享
err收藏
Detection rate of pathogenic variants by postmortem genetic testing for sudden cardiac death among children and young adults: systematic review and meta-analysis儿童和青年人猝死中死后基因检测致病变异的检出率：系统评价和荟萃分析
errGenetics in Medicine
IF6.2
err2026-09-08
err0
errOAAI
errKanako Koike Fukushima; Takahiro Itaya; Yuko Kamiakito; Seiko Ohno; Hirokazu Kotani; Shoji Tsuji; Masakazu Nishigaki
err分享
err收藏
The LRRK2 G2385R Exonic Variant and Multiple System Atrophy: Findings from the Japan MSA RegistryLRRK2 G2385R外显子变异与多系统萎缩：来自日本MSA登记研究的发现
errMovement Disorders
IF7.6
err2026-07-29
err0
PREAI
errKenta Orimo MD, PhD; Jun Mitsui MD, PhD; Shoji Tsuji MD, PhD
err分享
err收藏
A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 21例因单纯疱疹病毒2型引起的、合并复发性Mollaret脑膜炎的肾上腺脊髓神经病病例
errInternal Medicine
IF1.1
err2026-01-01
err0
PREAI
errNakamura, Yumiko; Kakumoto, Toshiyuki; Yoshimoto, Munehiro; Ota, Yusuke; Suzuki, Anna; Komori, Yuta; Matsukawa, Takashi; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi
err分享
err收藏
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion由新型多外显子PUS1基因缺失导致的呼吸链复合物I缺乏症
errJournal of Human Genetics
IF2.5
err2025-12-08
err0
PREAI
errJun-Hui Yuan; Yujiro Higuchi; Masahiro Ando; Akihiro Hashiguchi; Yuji Okamoto; Yu Hiramatsu; Akiko Yoshimura; Kento Kodama; Yusuke Sakiyama; Jun Mitsui; Shoji Tsuji; Hiroshi Takashima
err分享
err收藏
Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings (vol 11, e200293, 2025)范ishing white matter disease with EIF2B2 c.254T>A variant: 轻度临床和MRI表现 (vol 11, e200293, 2025)
errNEUROLOGY-GENETICS
IF3.7
err2025-12-01
err0
PREAI
errKakumoto, Toshiyuki; Matsukawa, Takashi; Tokimura, Ryo; Tsuboyama, Yoko; Hayashi, Yasufumi; Mitsutake, Akihiko; Iwata, Atsushi; Maeda, Meiko Hashimoto; Shimizu, Jun; Gonoi, Wataru; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi
err分享
err收藏
Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis一个日本家族性肌萎缩侧索硬化症中SOD1基因的新型框内重复变异
errAMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
IF2.8
err2025-12-01
err0
PREAI
errNakajima, Masanori; Naruse, Hiroya; Riku, Yuichi; Ueda, Kunihiro; Matsukawa, Takashi; Mitsui, Jun; Nakamura, Yoshitsugu; Ishida, Shimon; Yamada, Takashi; Moro, Naoki; Kotsuki, Naoki; Nagai, Kentaro; Tokushige, Shin-ichi; Uchibori, Ayumi; Oishi, Chizuko; Yabata, Hiroyuki; Urushitani, Makoto; Iwasaki, Yasushi; Ishiura, Hiroyuki; Toda, Tatsushi; Tsuji, Shoji; Ichikawa, Yaeko
err分享
err收藏
Frameshift and Copy Number Variants in SACS-Related Neuropathy移码和拷贝数变异在SACS相关神经病变中的作用
errNEUROLOGY-GENETICS
IF3.7
err2025-12-01
err0
PREAI
errYuan, Jun-Hui; Higuchi, Yujiro; Ando, Masahiro; Hiramatsu, Yu; Yoshimura, Akiko; Hobara, Takahiro; Kojima, Fumikazu; Nakamura, Tomonori; Sakiyama, Yusuke; Nozuma, Satoshi; Ohyama, Satoshi; Mitsui, Jun; Tsuji, Shoji; Takashima, Hiroshi
err分享
err收藏
Safety and efficacy of vibegron in pediatric patients with treatment-resistant nocturnal enuresis: a multicenter retrospective study
errTRANSLATIONAL PEDIATRICS
IF1.7
err2025-11-01
err0
PREAI
errIkeda, Hirokazu; Watanabe, Yoshitaka; Ohtomo, Yoshiyuki; Miyano, Hiroki; Fujinaga, Shuichiro; Gonda, Yusuke; Hata, Atsuko; Tsuji, Shoji; Shiroyanagi, Yoshiyuki; Nishizaki, Naoto; Hamada, Junpei; Nishino, Tomohiko; Fuyama, Masaki; Murakami, Hitohiko; Matsuyama, Takeshi
err分享
err收藏
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant Mild Clinical and MRI Findings
errNEUROLOGY-GENETICS
IF3.7
err2025-10-01
err1
errOAAI
errKakumoto, Toshiyuki; Matsukawa, Takashi; Tokimura, Ryo; Tsuboyama, Yoko; Hayashi, Yasufumi; Mitsutake, Akihiko; Iwata, Atsushi; Maeda, Meiko Hashimoto; Shimizu, Jun; Gonoi, Wataru; Ishiura, Hiroyuki; Mitsui, Jun; Tsuji, Shoji; Toda, Tatsushi
err分享
err收藏
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3两个日本家庭，其成人起病的白质脑病由CST3致病性变异引起。
errJournal of the Neurological Sciences
IF3.2
err2025-09-26
err0
errOAAI
errKenta Orimo; Takashi Matsukawa; Kazutaka Shiomi; Ryoji Goto; Akihiko Mitsutake; Yumiko Kuromi; Nozomu Matsuda; Kazuaki Kanai; Ryo Kurokawa; Hiroyuki Ishiura; Jun Mitsui; Junko Nomoto; Masaki Tanaka; Yosuke Omae; Yosuke Kawai; Katsushi Tokunaga; Shoji Tsuji; Tatsushi Toda
err分享
err收藏
Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series巨大轴索神经病中的Charcot–Marie–Tooth样表现：大型日本病例系列的临床变异性和患病率
errJournal of Neurology
IF4.6
err2025-07-16
err0
errOAAI
errTakahiro Hobara; Masahiro Ando; Yujiro Higuchi; Jun-Hui Yuan; Akiko Yoshimura; Takashi Saito; Takashi Shiihara; Shiho Okuda; Naoki Fukushima; Hiroyuki Awano; Takahito Inoue; Chikashi Yano; Fumikazu Kojima; Kento Kodama; Yu Hiramatsu; Satoshi Nozuma; Tomonori Nakamura; Yusuke Sakiyama; Akihiro Hashiguchi; Jun Mitsui; Shoji Tsuji; Hiroshi Takashima
err分享
err收藏
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability一个携带KIF1A新型致病变异的日本家族，表现为痉挛性截瘫、小脑共济失调和智力障碍。
errCEREBELLUM
IF2.4
err2024-12-28
err0
PREAI
errMitsutake, Akihiko; Kawai, Mizuho; Orimo, Kenta; Matsukawa, Takashi; Ishiura, Hiroyuki; Mitsui, Jun; Nakajima, Hideki; Murai, Hiroyuki; Tsuji, Shoji; Goto, Jun; Iwata, Nobue K.
err分享
err收藏
Genetic and Functional Analyses of Patients with Marked HypoHigh-Density Lipoprotein Cholesterolemia
errJOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
IF2.8
err2024-09-01
err0
errOAAI
errFuruta, Yasuhisa; Osaki, Yoshinori; Nakagawa, Yoshimi; Han, Song-Iee; Araki, Masaya; Shikama, Akito; Ohuchi, Nami; Yamazaki, Daichi; Matsuda, Erika; Nohara, Seitaro; Mizunoe, Yuhei; Kainoh, Kenta; Suehara, Yasuhito; Ohno, Hiroshi; Takeuchi, Yoshinori; Miyamoto, Takafumi; Murayama, Yuki; Sugano, Yoko; Iwasaki, Hitoshi; Hirano, Ken-ichi; Koseki, Masahiro; Nakano, Shogo; Tokiwa, Hiroaki; Sekiya, Motohiro; Yahagi, Naoya; Matsuzaka, Takashi; Nakamagoe, Kiyotaka; Tomidokoro, Yasushi; Mitsui, Jun; Tsuji, Shoji; Suzuki, Hiroaki; Shimano, Hitoshi
err分享
err收藏
Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer
errDIAGNOSTICS
IF3.3
err2024-06-17
err0
errOAAI
errNagashima, Akari; Morimura, Sohshi; Hamada, Toshihisa; Shiomi, Takayuki; Mori, Ichiro; Sato, Naoko; Nomoto, Junko; Tanaka, Masaki; Tsuji, Shoji; Sugaya, Makoto
err分享
err收藏
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis由于鞘脂合成异常，SPTLC2变体与早发性ALS和FTD相关
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-02-05
err4
errOAAI
errNaruse, Hiroya; Ishiura, Hiroyuki; Esaki, Kayoko; Mitsui, Jun; Satake, Wataru; Greimel, Peter; Shingai, Nanoka; Machino, Yuka; Kokubo, Yasumasa; Hamaguchi, Hirotoshi; Oda, Tetsuya; Ikkaku, Tomoko; Yokota, Ichiro; Takahashi, Yuji; Suzuki, Yuta; Matsukawa, Takashi; Goto, Jun; Koh, Kishin; Takiyama, Yoshihisa; Morishita, Shinichi; Yoshikawa, Takeo; Tsuji, Shoji; Toda, Tatsushi
err分享
err收藏
Serum Creatinine-Cystatin C Based Screening of Sarcopenia in Community Dwelling Older Adults: A Cross-Sectional Analysis
errJOURNAL OF FRAILTY & AGING
IF3.3
err2024-02-01
err3
errOAAI
errMatsuzawa, R.; Nagai, K.; Takahashi, K.; Mori, T.; Onishi, M.; Tsuji, S.; Hashimoto, K.; Tamaki, K.; Wada, Y.; Kusunoki, H.; Nagasawa, Y.; Shinmura, K.
err分享
err收藏
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
errJOURNAL OF GENETICS AND GENOMICS
IF7.1
err2024-02-01
err2
PREAI
errShi, Yan; Cao, Chunyan; Zeng, Yiheng; Ding, Yuanliang; Chen, Long; Zheng, Fuze; Chen, Xuejiao; Zhou, Fanggui; Yang, Xiefeng; Li, Jinjing; Xu, Liuqing; Xu, Guorong; Lin, Minting; Ishiura, Hiroyuki; Tsuji, Shoji; Wang, Ning; Wang, Zhiqiang; Chen, Wan-Jin; Yang, Kang
err分享
err收藏
Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task
errCLINICAL NEUROPHYSIOLOGY
IF3.6
err2024-02-01
err1
errOAAI
errTokushige, Shin-ichi; Matsuda, Shunichi; Tada, Masayoshi; Yabe, Ichiro; Takeda, Atsushi; Tanaka, Hiroyasu; Hatakenaka, Megumi; Enomoto, Hiroyuki; Kobayashi, Shunsuke; Shimizu, Kazutaka; Shimizu, Takahiro; Kotsuki, Naoki; Inomata-Terada, Satomi; Furubayashi, Toshiaki; Ichikawa, Yaeko; Hanajima, Ritsuko; Tsuji, Shoji; Ugawa, Yoshikazu; Terao, Yasuo
err分享
err收藏
Abnormal saccade profiles in hereditary spinocerebellar degeneration reveal cerebellar contribution to visually guided saccades
errCLINICAL NEUROPHYSIOLOGY
IF3.6
err2023-10-01
err1
PREAI
errInomata-Terada, Satomi; Fukuda, Hideki; Tokushige, Shin-ichi; Matsuda, Shun-ichi; Hamada, Masashi; Ugawa, Yoshikazu; Tsuji, Shoji; Terao, Yasuo
err分享
err收藏

研究方向

暂无研究方向
合作学者
合作期刊
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Ronald C. Petersen
H 指数: 205 · 论文数: 2.0K
E
Eliezer Masliah
H 指数: 195 · 论文数: 1.2K
J
Jeffrey L. Cummings
H 指数: 176 · 论文数: 1.5K
B
Bradley F. Boeve
H 指数: 172 · 论文数: 1.5K
A
Anthony E. Lang
H 指数: 166 · 论文数: 1.5K
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