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2023 2
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Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
Fitrah YA, Higuchi Y, Hara N, Tokutake T, Kanazawa M, Sanpei K, Taneda T, Nakajima A, Koide S, Tsuboguchi S, Watanabe M, Fukumoto J, Ando S, Sato T, Iwafuchi Y, Sato A, Hayashi H, Ishiguro T, Takeda H, Takahashi T, Fukuhara N, Kasuga K, Miyashita A, Onodera O, Ikeuchi T. Fitrah YA, et al. Among authors: koide s. Brain Sci. 2023 Jun 15;13(6):955. doi: 10.3390/brainsci13060955. Brain Sci. 2023. PMID: 37371433 Free PMC article.
Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
Hayashi H, Saito R, Tanaka H, Hara N, Koide S, Yonemochi Y, Ozawa T, Hokari M, Toyoshima Y, Miyashita A, Onodera O, Okamoto K, Ikeuchi T, Nakajima T, Kakita A. Hayashi H, et al. Among authors: koide s. Acta Neuropathol Commun. 2023 Dec 20;11(1):207. doi: 10.1186/s40478-023-01692-w. Acta Neuropathol Commun. 2023. PMID: 38124143 Free PMC article. No abstract available.
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Chauvin SD, Ando S, Holley JA, Sugie A, Zhao FR, Poddar S, Kato R, Miner CA, Nitta Y, Krishnamurthy SR, Saito R, Ning Y, Hatano Y, Kitahara S, Koide S, Stinson WA, Fu J, Surve N, Kumble L, Qian W, Polishchuk O, Andhey PS, Chiang C, Liu G, Colombeau L, Rodriguez R, Manel N, Kakita A, Artyomov MN, Schultz DC, Coates PT, Roberson EDO, Belkaid Y, Greenberg RA, Cherry S, Gack MU, Hardy T, Onodera O, Kato T, Miner JJ. Chauvin SD, et al. Among authors: koide s. Nat Commun. 2024 Jun 1;15(1):4696. doi: 10.1038/s41467-024-49066-7. Nat Commun. 2024. PMID: 38824133 Free PMC article.