Research theme for competitive and other funds (2)：
神経疾患の分子機構の解明
Molecular mechanism of neurologic diseases
Papers (690)：
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui, et al. RFC1-related disorder presenting recurrent syncope. Journal of neurology. 2024
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, et al. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. Annals of clinical and translational neurology. 2024
Nakamura Natsuko, Tsunoda Kazushige, Mitsutake Akihiko, Shibata Shota, Ishiura Hiroyuki, Maeda Meiko, Hamada Masashi, Satake Wataru, Tsuji Shoji, Toda Tatsushi, et al. 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). 眼科臨床紀要. 2023. 16. 12. 891-891
Mitsutake Akihiko, Kawai Mizuho, Arakawa Akira, Kakumoto Toshiyuki, Matsukawa Takashi, Shirota Yuichiro, Sakuishi Kaori, Mitsui Jun, Yogo Makiko, Suzuki Masahiko, et al. 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). 臨床神経学. 2023. 63. Suppl. S335-S335
Naoki Takegami, Takashi Matsukawa, Masashi Hamada, Shuichi Tanifuji, Takayuki Tamura, Nanaka Yamaguchi-Takegami, Hiroyuki Ishiura, Jun Mitsui, Kaori Sakuishi, Shoji Tsuji, et al. A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1. Internal medicine (Tokyo, Japan). 2023
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
- 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
