Research theme for competitive and other funds (11):
2022 - 2025 comprehensive search for expanded repeats in neurodegenerative diseaess
2021 - 2024 Analysis of novel vascular malformation causative gene
2021 - 2024 Development of long-term natural history and surrogate markers employing hard endpoints based on the Multiple System Atrophy Registry to generate evidence directly relevant to medical practice
2018 - 2022 Elucidation of mplecular mechanism of multiple system atrophy employing a patient registry system
2016 - 2021 先進ゲノム解析研究推進プラットフォーム
2015 - 2018 The search for a biomarker for multiple system atrophy
2014 - 2017 Elucidation of molecular mechanisms and development of surrogate markers for multiple system atrophy caused by COQ2 mutations
2014 - 2017 Prediction of response to chemotherapy of colorectal liver metastases based on the tumor genetic profile
2013 - 2015 A genetic study of patients with multiple system atrophy from consanguineous families
2011 - 2012 Elucidation of genetic factors for Parkinson disease employing next-generation sequencer
Yasuhisa Furuta, Yoshinori Osaki, Yoshimi Nakagawa, Song-Iee Han, Masaya Araki, Akito Shikama, Nami Ohuchi, Daichi Yamazaki, Erika Matsuda, Seitaro Nohara, et al. Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia. Journal of atherosclerosis and thrombosis. 2024
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. 11. 4. 946-957
Ayaka Chikada, Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Hidehiro Mizusawa, Yuji Takahashi, Masahisa Katsuno, Kazuhiro Hara, et al. The Japan MSA registry: A multicenter cohort study of multiple system atrophy. Neurology and Clinical Neuroscience. 2024
Yu Teranishi, Satoru Miyawaki, Masahiro Nakatochi, Atsushi Okano, Kenta Ohara, Hiroki Hongo, Daiichiro Ishigami, Yu Sakai, Daisuke Shimada, Shunsaku Takayanagi, et al. Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration. Acta neuropathologica communications. 2023. 11. 1. 156-156