Samuel D. Chauvin, Shoichiro Ando, Joe A. Holley, Atsushi Sugie, Fang R. Zhao, Subhajit Poddar, Rei Kato, Cathrine A. Miner, Yohei Nitta, Siddharth R. Krishnamurthy, et al. Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans. Nature Communications. 2024. 15. 1
Masahiro Uemura, Natsuki Tanaka, Shoichiro Ando, Takehiko Yanagihara, Osamu Onodera. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and <span aria-describedby="tippy-31">Literature Review. Neurology International. 2023
Masahiro Uemura, Sho Kitahara, Taisuke Kato, Hiroaki Nozaki, Shoichiro Ando, Tomohiko Ishihara, Osamu Onodera. Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic. Annals of clinical and translational neurology. 2023. 10. 7. 1261-1262
Yusran Ady Fitrah, Yo Higuchi, Norikazu Hara, Takayoshi Tokutake, Masato Kanazawa, Kazuhiro Sanpei, Tomone Taneda, Akihiko Nakajima, Shin Koide, Shintaro Tsuboguchi, et al. Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion. Brain Sciences. 2023. 13. 6. 955-955
Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, et al. High frequency of<i>HTRA1</i>AND<i>ABCC6</i>mutations in Japanese patients with adult-onset cerebral small vessel disease. Journal of Neurology, Neurosurgery & Psychiatry. 2022. jnnp-2022
