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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. Among authors: stanic j. 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.
Linking NMDA Receptor Synaptic Retention to Synaptic Plasticity and Cognition.
Franchini L, Stanic J, Ponzoni L, Mellone M, Carrano N, Musardo S, Zianni E, Olivero G, Marcello E, Pittaluga A, Sala M, Bellone C, Racca C, Di Luca M, Gardoni F. Franchini L, et al. Among authors: stanic j. iScience. 2019 Sep 27;19:927-939. doi: 10.1016/j.isci.2019.08.036. Epub 2019 Aug 27. iScience. 2019. PMID: 31518901 Free PMC article.
NMDA receptor GluN2A/GluN2B subunit ratio as synaptic trait of levodopa-induced dyskinesias: from experimental models to patients.
Mellone M, Stanic J, Hernandez LF, Iglesias E, Zianni E, Longhi A, Prigent A, Picconi B, Calabresi P, Hirsch EC, Obeso JA, Di Luca M, Gardoni F. Mellone M, et al. Among authors: stanic j. Front Cell Neurosci. 2015 Jul 6;9:245. doi: 10.3389/fncel.2015.00245. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26217176 Free PMC 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.
36 results