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393 results

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Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells.
Scimone C, Alibrandi S, Donato L, De Gaetano GV, Fusco C, Nardella G, Castori M, Rinaldi C, Alafaci C, Germanò A, D'Angelo R, Sidoti A. Scimone C, et al. Among authors: fusco c. Biochim Biophys Acta Mol Cell Res. 2023 Jun;1870(5):119474. doi: 10.1016/j.bbamcr.2023.119474. Epub 2023 Apr 7. Biochim Biophys Acta Mol Cell Res. 2023. PMID: 37030452 Free article.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: fusco c. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M. Micale L, et al. Among authors: fusco c. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165742. doi: 10.1016/j.bbadis.2020.165742. Epub 2020 Feb 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32105826 Free article.
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
Lanfranconi S, Scola E, Bertani GA, Zarino B, Pallini R, d'Alessandris G, Mazzon E, Marino S, Carriero MR, Scelzo E, Faragò G, Castori M, Fusco C, Petracca A, d'Agruma L, Tassi L, d'Orio P, Lampugnani MG, Nicolis EB, Vasamì A, Novelli D, Torri V, Meessen JMTA, Al-Shahi Salman R, Dejana E, Latini R; Treat-CCM Investigators. Lanfranconi S, et al. Among authors: fusco c. Trials. 2020 May 12;21(1):401. doi: 10.1186/s13063-020-4202-x. Trials. 2020. PMID: 32398113 Free PMC article. Clinical Trial.
393 results