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A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG. Poeta L, et al. Among authors: drongitis d. Am J Hum Genet. 2013 Jan 10;92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246292 Free PMC article.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: drongitis d. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A, Drongitis D, Donizetti A, Fucci L, Milan G, Tripodi F, Giustezza F, Postiglione A, Pappatà S, Ferrari R, Bossù P, Angiolillo A, di Costanzo A, Caiazzo M, Vitale E. Rendina A, et al. Among authors: drongitis d. J Neuropathol Exp Neurol. 2020 Aug 1;79(8):891-901. doi: 10.1093/jnen/nlaa055. J Neuropathol Exp Neurol. 2020. PMID: 32647856
11 results