Shoji Tsuji

Profile Information

Affiliation: Professor, Institute of Medical Genomics, International University of Health and Welfare

Degree: (BLANK)

J-GLOBAL ID: 200901087096841589
researchmap Member ID: 1000019230

Research Interests

Research Areas

Research History

The University of Tokyo Graduate School of Medicine

Education

- 1976

Faculty of Medicine, The University of Tokyo
- 1976

Faculty of Medicine, The University of Tokyo

Committee Memberships

Awards

Papers

691

RFC1-related disorder presenting recurrent syncope.

Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui …

Journal of neurology, Mar 7, 2024
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi …

Annals of clinical and translational neurology, Feb 5, 2024
Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task.

Shin-Ichi Tokushige, Shunichi Matsuda, Masayoshi Tada, Ichiro Yabe, Atsushi Takeda, Hiroyasu Tanaka, Megumi Hatakenaka, Hiroyuki Enomoto, Shunsuke Kobayashi, Kazutaka Shimizu …

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 158 1-15, Feb, 2024
成人発症の神経核内封入体病関連網膜症患者の臨床的および電気生理学的特徴(Clinical and electrophysiological characteristics of patients with adult-onset neuronal intranuclear inclusion disease related retinopathy)

Nakamura Natsuko, Tsunoda Kazushige, Mitsutake Akihiko, Shibata Shota, Ishiura Hiroyuki, Maeda Meiko, Hamada Masashi, Satake Wataru, Tsuji Shoji, Toda Tatsushi …

眼科臨床紀要, 16(12) 891-891, Dec, 2023
日本における常染色体劣性遺伝性脊髄小脳変性症8型の臨床、遺伝、病理学的研究(A clinical, genetic, and pathological study of autosomal recessive spinocerebellar ataxia-8 in Japan)

Mitsutake Akihiko, Kawai Mizuho, Arakawa Akira, Kakumoto Toshiyuki, Matsukawa Takashi, Shirota Yuichiro, Sakuishi Kaori, Mitsui Jun, Yogo Makiko, Suzuki Masahiko …

臨床神経学, 63(Suppl.) S335-S335, Sep, 2023
A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.

Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji …

Internal medicine (Tokyo, Japan), Aug 9, 2023
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.

Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, Yusuke Sugiyama, Ayaka Chikada, Kristine Joyce L Porto, Naoki Takegami, Kaori Sakuishi, Hiroyuki Ishiura, Kaoru Yamada …

Internal medicine (Tokyo, Japan), Aug 9, 2023
A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant

Kenta Orimo, Toshiyuki Kakumoto, Ryo Hara, Ryoji Goto, Hiroyuki Ishiura, Jun Mitsui, Chiharu Yoshida, Yoshikazu Uesaka, Yuta Suzuki, Shinichi Morishita …

Journal of the Neurological Sciences, 120732-120732, Jul, 2023
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.

Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera …

Journal of movement disorders, Jun 13, 2023
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.

Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji

Epilepsia, 64 Suppl 1 S31-S38, Jun, 2023
Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.

Toshiyuki Kakumoto, Takashi Matsukawa, Hiroyuki Ishiura, Harushi Mori, Shoji Tsuji, Tatsushi Toda

Annals of clinical and translational neurology, May 31, 2023
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.

Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda

Journal of the peripheral nervous system : JPNS, May 30, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.

Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, Hiroya Naruse, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji, Masahiro Sonoo, Tatsushi Toda

Journal of the peripheral nervous system : JPNS, May 11, 2023
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda …

medRxiv : the preprint server for health sciences, May 2, 2023
脊髄小脳変性症とその周辺疾患:最近のトピックス多系統萎縮症の治療開発について

三井純, 辻省次

神経治療学, 40(3) 324-327, May, 2023
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.

Jun Mitsui, Takashi Matsukawa, Yukari Uemura, Takuya Kawahara, Ayaka Chikada, Kristine Joyce L Porto, Hiroya Naruse, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda …

EClinicalMedicine, 59 101920-101920, May, 2023
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease.

Akihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, Hiroyuki Ishiura, Jun Mitsui, Harushi Mori, Takashi Toya, Akira Honda, Mineo Kurokawa, Norio Sakai …

Brain & development, Apr 18, 2023
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.

Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda

Journal of human genetics, 68(3) 169-174, Mar, 2023
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.

Naoki Takegami, Akihiko Mitsutake, Tatsuo Mano, Yukako Shintani-Domoto, Atsushi Unuma, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Kaori Sakuishi, Masahiko Ando, Haruo Yamauchi …

Internal medicine (Tokyo, Japan), Feb 15, 2023
APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula.

Ryogen Sasaki, Satoru Morimoto, Fumiko Ozawa, Hideyuki Okano, Mari Yoshida, Hiroyuki Ishiura, Shoji Tsuji, Shigeki Kuzuhara, Yasumasa Kokubo

Neurology, 99(22) e2437-e2442, Nov 29, 2022

Misc.

2102

Comprehensive genome analysis for establishment of molecular diagnosis of genetic diseases.

辻省次, 佐藤奈穂子, 田中真生, 野本順子

月刊皮膚科, 5(1), 2024
神経核内封入体病関連網膜症におけるリピート数と重症度の相関

中村奈津子, 中村奈津子, 角田和繁, 光武明彦, 光武明彦, 柴田頌太, 前田明子, 濱田雅, 佐竹渉, 石浦浩之 …

日本網膜硝子体学会総会プログラム・講演抄録集, 62nd, 2023
遺伝性痙性対麻痺におけるATL1の新規de novo変異の同定と臨床像の検討

中村歩美, 成瀬紘也, 光武明彦, 石浦浩之, 三井純, 張香理, 森下真一, 岩越美恵, 岩越美恵, 辻省次 …

日本神経学会学術大会プログラム・抄録集, 64th, 2023
Developing a treatment for multiple system atrophy

三井純, 三井純, 辻省次, 辻省次

神経治療学(Web), 40(3), 2023
遺伝性疾患のゲノム解析研究のミッションと改正医療法下の遺伝学的検査

辻省次, 田中真生, 野本順子, 佐藤奈穂子

日本遺伝子診療学会大会プログラム・抄録集, 29th, 2022
次世代シーケンサーを用いたクリニカルシーケンスの実施にあたって必要となるプログラム群およびパイプラインに関する検討

田中真生, 野本順子, 佐藤奈穂子, 佐藤奈穂子, 辻省次, 辻省次

日本人類遺伝学会大会プログラム・抄録集, 67th (CD-ROM), 2022
次世代シーケンサーを用いたクリニカルシーケンスの診療体制の構築

佐藤奈穂子, 田中真生, 野本順子, 西垣昌和, 辻省次, 辻省次

日本人類遺伝学会大会プログラム・抄録集, 67th (CD-ROM), 2022
Matrisomeの擾乱から見た脳小血管病の分子病態と治療法への展望

加藤泰介, 眞鍋理一郎, 五十嵐博中, 亀谷富由樹, 齊藤聡, 畠野雄也, 安藤昭一朗, 福永雅喜, 佐藤俊哉, 齋藤理恵 …

Dementia Japan, 36(4), 2022
An autopsy case of SCAR8 (SYNE1 ataxia) with slowly progressive cerebellar ataxia over a period of about 30 years

河合三津保, 荒川晶, 荒川晶, 光武明彦, 代田悠一郎, 代田悠一郎, 寺田さとみ, 後藤順, 安永瑛一, 池村雅子 …

Neuropathology (Web), 42(Supplement), 2022
A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients

Shuichiro Neshige, Takefumi Hitomi, Maya Tojima, Kazuki Oi, Katsuya Kobayashi, Masao Matsuhashi, Akihiro Shimotake, Riki Matsumoto, Masutaro Kanda, Hirofumi Maruyama …

Movement Disorders, 36(10) 2446-2448, Oct, 2021
副腎白質ジストロフィーでの脳脊髄液中ミエリン塩基性蛋白測定の意義

角元利行, 松川敬志, 松川敬志, 石浦浩之, 辻省次, 辻省次, 戸田達史

日本神経学会学術大会プログラム・抄録集, 62nd, 2021
両側対立遺伝子でhuntingtinのCAG repeat異常伸長を認めたHuntington病の臨床的検討

上田洲裕, 内上寛一, 松川敬志, 松川敬志, 久保田暁, 石浦浩之, 三井純, 高橋祐二, 後藤順, 辻省次 …

日本神経学会学術大会プログラム・抄録集, 62nd, 2021
当科における家族性アミロイドポリニューロパチー(TTR I107V変異)の予後の検討

大久保颯, 荒川晶, 成瀬紘也, 三井純, 石浦浩之, 作石かおり, 岩田淳, 佐竹渉, 辻省次, 戸田達史

日本神経学会学術大会プログラム・抄録集, 62nd, 2021
中等学校のがん教育の課題遺伝医療の要素を理科授業として取り入れる試み

平岡さゆり, 太宰牧子, 加藤陽一郎, 四元淳子, 辻省次

日本遺伝カウンセリング学会誌, 41(2) 134-134, Jun, 2020 Peer-reviewed
10年の経過で緩徐に増悪する反復発作性運動失調症を呈し,CACNA1A c.3695+1G>A変異を認めた61歳男性例

三宅亮, 勝又淳子, 日野理美, 佐藤達哉, 坂内太郎, 中元ふみ子, 関大成, 石浦浩之, 三井純, 辻省次 …

臨床神経学(Web), 60(5), 2020
多系統萎縮症の自然歴における予後因子の検討

近田彩香, 松川敬志, 三井純, 辻省次, 辻省次, 戸田達史

日本神経学会学術大会プログラム・抄録集, 61st, 2020
IBMPFD2家系の臨床的検討

武田勇人, 三宅善嗣, 石井亜紀子, 保坂孝史, 奥根祥, 伊佐恵, 町田明, 成瀬紘也, 石浦浩之, 三井純 …

日本神経学会学術大会プログラム・抄録集, 61st, 2020
二次性白血病発症に関わる遺伝子変異の経時的なゲノム解析

野本順子, 小林幸夫, 田中真生, 辻省次

国際医療福祉大学学会誌, 25, 2020
新型コロナウイルス感染拡大初期におけるPCR検査提供体制の迅速な構築を目指した取り組み

田中真生, 藤井樹, 野本順子, 辻省次

国際医療福祉大学学会誌, 25, 2020
医師主導治験における患者レジストリーからの被験者リクルート

和田育江, 平野麻理, 葛山晴子, 何俊郎, 三井純, 辻省次, 森豊隆志

臨床薬理, 50(Suppl.) S312-S312, Nov, 2019

Books and Other Publications

Dentatorubral-pallidoluysian atrophy(DRPLA).

Analysis of Triplet Repeat Disorders, Rubinsztein, D. C. & Hayden, M. R. (eds), BIOS Scientific Publishers, 1998
DIRECT technologies. (共著)

In : Genetic Instabilities and Hereditary Neurological Diseases, Wells, R. D. &Warren, S. T. (eds), Academic press, 1998
Molecular genetics of dentatorubral-pallidoluysian atrophy(DRPLA).

In : Genetic Instabilities and Hereditary Neurological Diseases, Wells, R. D. &Warren, S. T. (eds), Academic Press, 1998
Mo1ecu1ar c1oning of human growth inhiditory Factor cDNA and its down-regu1ation in A1zheimer,disease.

A1zheimeri, and Parkinson's Diseases-Recent Deve1opments, edited by Hanin, I.,Yoshida, M. and Fisher, A., P1enum Press, New York, U. S. A .,, 1995
Linkage analysis of hereditary progressive dystonia to the tyrosine hydroxylase gene locus. (共著)

Hereditary Progressive Dystonia with Marked Diurnal Fluctuation, M. Segawa(ed), The Parthenon Publishing Group, Lancs, U. K., 1992
Genetic heterogeneity in Gaucher disease : Identification of multiple allelic mutations and implications for therapeutic approaches utilizing gene transfer. (共著)

Gene Transfer and Gene Therapy, Alan R. Liss, Inc., 1989
Molecular biology of Gaucher disease : therapeutic strategies utilizing recombinant DNA technology. (共著)

LIPID STORAGE DISORDERS, R. Salvayre, l. Douste-Blazy&S. Gatt(eds. ), Plenum Publishing Corporation, 1988
Dentatorubral-pallidoluysian atrophy(DRPLA)

Clinical features and molecular genetics. Adv. Neurol.

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