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Year Number of Results
1994 4
1995 1
2017 1
2018 1
2019 2
2020 2
2023 1
2024 0

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PubMed for id: 45267837

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Page 1
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Rabphilin 3A: A novel target for the treatment of levodopa-induced dyskinesias.
Stanic J, Mellone M, Napolitano F, Racca C, Zianni E, Minocci D, Ghiglieri V, Thiolat ML, Li Q, Longhi A, De Rosa A, Picconi B, Bezard E, Calabresi P, Di Luca M, Usiello A, Gardoni F. Stanic J, et al. Neurobiol Dis. 2017 Dec;108:54-64. doi: 10.1016/j.nbd.2017.08.001. Epub 2017 Aug 18. Neurobiol Dis. 2017. PMID: 28823933 Free article.
Localization of Rabphilin-3A on the synaptic vesicle.
Mizoguchi A, Yano Y, Hamaguchi H, Yanagida H, Ide C, Zahraoui A, Shirataki H, Sasaki T, Takai Y. Mizoguchi A, et al. Biochem Biophys Res Commun. 1994 Aug 15;202(3):1235-43. doi: 10.1006/bbrc.1994.2063. Biochem Biophys Res Commun. 1994. PMID: 8060298