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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
Cerebral Aβ deposition in an Aβ-precursor protein-transgenic rhesus monkey.
Chan AWS, Cho IK, Li CX, Zhang X, Patel S, Rusnak R, Raper J, Bachevalier J, Moran SP, Chi T, Cannon KH, Hunter CE, Martin RC, Xiao H, Yang SH, Gumber S, Herndon JG, Rosen RF, Hu WT, Lah JJ, Levey AI, Smith Y, Walker LC. Chan AWS, et al. Aging Brain. 2022;2:100044. doi: 10.1016/j.nbas.2022.100044. Epub 2022 Jun 17. Aging Brain. 2022. PMID: 36589695 Free PMC article.