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NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Sone J, Ueno S, Akagi A, Miyahara H, Tamai C, Riku Y, Yabata H, Koizumi R, Hattori T, Hirose H, Koyanagi Y, Kobayashi R, Okada H, Kishimoto Y, Hashizume Y, Sobue G, Yoshida M, Iwasaki Y. Sone J, et al. Among authors: ueno s. Acta Neuropathol Commun. 2023 May 2;11(1):71. doi: 10.1186/s40478-023-01564-3. Acta Neuropathol Commun. 2023. PMID: 37131242 Free PMC article.
Longitudinal Changes of Macular Curvature in Patients with Retinitis Pigmentosa.
Meinert M, Ueno S, Komori S, Koyanagi Y, Sayo A, Andreasson S, Kominami T, Ito Y, Terasaki H. Meinert M, et al. Among authors: ueno s. Transl Vis Sci Technol. 2020 Sep 10;9(10):11. doi: 10.1167/tvst.9.10.11. eCollection 2020 Sep. Transl Vis Sci Technol. 2020. PMID: 32974083 Free PMC article.
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, Aoi T, Hashimoto K, Nakazawa T, Wada Y, Ueno S, Gao D, Murakami A, Hotta Y, Ikeda Y, Nishiguchi KM, Momozawa Y, Sonoda KH, Akiyama M, Fujimoto A. Sano Y, et al. Among authors: ueno s. J Med Genet. 2022 Nov;59(11):1133-1138. doi: 10.1136/jmedgenet-2022-108428. Epub 2022 Jun 15. J Med Genet. 2022. PMID: 35710107 Free PMC article.
2,182 results