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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: read j. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
Differential Level of RXFP3 Expression in Dopaminergic Neurons Within the Arcuate Nucleus, Dorsomedial Hypothalamus and Ventral Tegmental Area of RXFP3-Cre/tdTomato Mice.
Voglsanger LM, Read J, Ch'ng SS, Zhang C, Eraslan IM, Gray L, Rivera LR, Hamilton LD, Williams R, Gundlach AL, Smith CM. Voglsanger LM, et al. Among authors: read j. Front Neurosci. 2021 Jan 6;14:594818. doi: 10.3389/fnins.2020.594818. eCollection 2020. Front Neurosci. 2021. PMID: 33584175 Free PMC article.
Neuroanatomical distribution of fluorophores within adult RXFP3 Cre-tdTomato/YFP mouse brain.
Eraslan IM, Egberts-Brugman M, Read JL, Voglsanger LM, Samarasinghe RM, Hamilton L, Dhar P, Williams RJ, Walker LC, Ch'ng S, Lawrence AJ, Walker AJ, Dean OM, Gundlach AL, Smith CM. Eraslan IM, et al. Among authors: read jl. Biochem Pharmacol. 2024 May 5;225:116265. doi: 10.1016/j.bcp.2024.116265. Online ahead of print. Biochem Pharmacol. 2024. PMID: 38714277 Free article.
1,659 results