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J-GLOBAL ID：200901087096841589   Update date: Mar. 20, 2025

Tsuji Shoji

ツジ ショウジ | Tsuji Shoji
Affiliation and department：
International University of Health and Welfare Institute of Medical Genomics

About International University of Health and Welfare Institute of Medical Genomics


Job title： Professor
Research field  (2)： Neurology ,  Medical biochemistry
Research keywords  (4)： 分子遺伝学 ,  神経内科学 ,  Molecular genetics ,  Neurology
Research theme for competitive and other funds  (3)：
  • 2016 - 2021 Platform for Advanced Genome Science
  • 神経疾患の分子機構の解明
  • Molecular mechanism of neurologic diseases
Papers (727)：
  • Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi, et al. In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy. Human genome variation. 2025. 12. 1. 5-5
  • Akihiko Mitsutake, Takashi Matsukawa, Rimi Hino, Go Fujino, Yuto Sakai, Jun Mitsui, Hiroyuki Ishiura, Nobue K Iwata, Shoji Tsuji, Tatsushi Toda. Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia. Internal medicine (Tokyo, Japan). 2025
  • Akihiko Mitsutake, Mizuho Kawai, Kenta Orimo, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Hideki Nakajima, Hiroyuki Murai, Shoji Tsuji, Jun Goto, et al. A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability. Cerebellum (London, England). 2024. 24. 1. 20-20
  • So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki, Jun Mitsui, Takashi Matsukawa, Wataru Satake, Peter Greimel, Nanoka Shingai, et al. Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis. Journal of neurology. 2024. 272. 1. 36-36
  • Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Tomohiko Ishihara, Osamu Onodera, Yuta Suzuki, Shinichi Morishita, Ayaka Chikada, Kenta Orimo, et al. Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population. European Journal of Human Genetics. 2024
ｍore...
MISC (2,114)：
  • 伊波勇輝, 荒畑幸絵, 佐藤奈穂子, 佐藤奈穂子, 田中真生, 野本順子, 高木篤史, 五十嵐徹, 植木英亮, 辻省次, et al. 片親性ダイソミーと考えられるPRRT2ホモ接合性バリアントを呈した9歳男児. 脳と発達. 2025. 57. 1
  • 田中真生, 野本順子, 佐藤奈穂子, 辻省次. 研究室でのLDTの開発,精度管理の取り組みについて. 日本遺伝子診療学会大会プログラム・抄録集. 2024. 31st
  • 辻省次, 佐藤奈穂子, 田中真生, 野本順子. Comprehensive genome analysis for establishment of molecular diagnosis of genetic diseases. 月刊皮膚科. 2024. 5. 1
  • 野本順子, 田中真生, 中崎久美, 小林幸夫, 辻省次. 造血器腫瘍における日本人高齢者の特徴的な遺伝子変異. 国際医療福祉大学学会誌. 2023. 28
  • 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, et al. 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. 日本網膜硝子体学会総会プログラム・講演抄録集. 2023. 62nd
ｍore...
Books (8)：
  • 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
ｍore...
Education (2)：
  • - 1976 The University of Tokyo Faculty of Medicine
  • - 1976 The University of Tokyo Faculty of Medicine
Professional career (1)：
  • (BLANK)
Work history (1)：
  • The University of Tokyo Graduate School of Medicine
Committee career (4)：
  • 1997 - 1998 日本内科学会 評議員,理事
  • 1997 - 日本神経化学会 理事,評議員
  • 1991 - 日本人類遺伝学会 評議員,理事
  • 1990 - 日本神経学会 評議員,理事
Awards (3)：
  • 1997 - 第30回日本人類遺伝学会賞
  • 1997 - (財)ブレインサイエンス振興財団 第11回塚原仲晃記念賞
  • 1996 - 平成8年度第49回新潟日報文化賞
Association Membership(s) (9)：
American Neurological Association ,  米国神経学アカデミ-(American Academy of Neurology) ,  日本内科学会 ,  米国神経科学会(Society for Neuroscience) ,  米国人類遺伝学会(American Society of Human Genetics) ,  日本分子生物学会 ,  日本人類遺伝学会 ,  日本神経化学会 ,  日本神経学会
※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

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