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Page 1
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
Novelli G, Liu J, Biancolella M, Alonzi T, Novelli A, Patten JJ, Cocciadiferro D, Agolini E, Colona VL, Rizzacasa B, Giannini R, Bigio B, Goletti D, Capobianchi MR, Grelli S, Mann J, McKee TD, Cheng K, Amanat F, Krammer F, Guarracino A, Pepe G, Tomino C, Tandjaoui-Lambiotte Y, Uzunhan Y, Tubiana S, Ghosn J; COVID Human Genetic Effort; French COVID Cohort Study Group; CoV-Contact Cohort; Notarangelo LD, Su HC, Abel L, Cobat A, Elhanan G, Grzymski JJ, Latini A, Sidhu SS, Jain S, Davey RA, Casanova JL, Wei W, Pandolfi PP. Novelli G, et al. Among authors: agolini e. Cell Death Dis. 2021 Mar 24;12(4):310. doi: 10.1038/s41419-021-03513-1. Cell Death Dis. 2021. PMID: 33762578 Free PMC article.
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Cacchione A, Fabozzi F, Carai A, Colafati GS, Baldo GD, Rossi S, Diana M, Megaro G, Milano GM, Macchiaiolo M, Crocoli A, De Ioris MA, Boccuto L, Secco DE, Zama M, Agolini E, Tomà P, Mastronuzzi A. Cacchione A, et al. Among authors: agolini e. Cancer Control. 2023 Jan-Dec;30:10732748221144930. doi: 10.1177/10732748221144930. Cancer Control. 2023. PMID: 36598023 Free PMC article.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: agolini e. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. Cocciadiferro D, et al. Among authors: agolini e. Medicine (Baltimore). 2020 Feb;99(8):e19169. doi: 10.1097/MD.0000000000019169. Medicine (Baltimore). 2020. PMID: 32080096 Free PMC article.
128 results