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
Rumi Ueha, Misaki Koyama, Akiko Seto, Taku Sato, Takao Goto, Kenta Orimo, Jun Mitsui, Tatsuya Yamasoba. Esophageal Dysmotility in Multiple System Atrophy: A Retrospective Cross-Sectional Study. Journal of clinical medicine. 2024. 13. 17
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
Hiroya Naruse, Chifumi Iseki, Jun Mitsui, Jun Miki, Hikaru Nagasawa, Katsuro Kurokawa, Ryota Kobayashi, Hiroyasu Sato, Jun Goto, Wataru Satake, et al. A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2024. 1-4
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