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 (717):
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, et al. Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications. Acta neuropathologica communications. 2024. 12. 1. 136-136
Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita, et al. A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy. Internal medicine (Tokyo, Japan). 2024
Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, et al. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-. Journal of Human Genetics. 2024
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui, et al. Correction to: RFC1-related disorder presenting recurrent syncope. Journal of neurology. 2024. 271. 7. 4639-4639
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
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