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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Cesaroni CA, Contrò G, Spagnoli C, Cancelliere F, Caraffi SG, Leon A, Stefanini C, Frattini D, Rizzi S, Cavalli A, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: fusco c. Neurogenetics. 2024 Apr 23. doi: 10.1007/s10048-024-00760-0. Online ahead of print. Neurogenetics. 2024. PMID: 38652341
Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.
Giardino G, Lanni V, Mascolo M, Russo D, Cirillo E, Romano R, Cillo F, Grilli L, Prencipe MR, Iuliano A, Uccello G, De Fusco C, Menna G, Scalia G, Portella G, Pignata C. Giardino G, et al. Among authors: de fusco c. Front Immunol. 2024 Apr 3;15:1370991. doi: 10.3389/fimmu.2024.1370991. eCollection 2024. Front Immunol. 2024. PMID: 38633254 Free PMC article.
Development of a Series of Pyrrolopyridone MAT2A Inhibitors.
Atkinson SJ, Bagal SK, Argyrou A, Askin S, Cheung T, Chiarparin E, Coen M, Collie IT, Dale IL, De Fusco C, Dillman K, Evans L, Feron LJ, Foster AJ, Grondine M, Kantae V, Lamont GM, Lamont S, Lynch JT, Nilsson Lill S, Robb GR, Saeh J, Schimpl M, Scott JS, Smith J, Srinivasan B, Tentarelli S, Vazquez-Chantada M, Wagner D, Walsh JJ, Watson D, Williamson B. Atkinson SJ, et al. Among authors: de fusco c. J Med Chem. 2024 Mar 28;67(6):4541-4559. doi: 10.1021/acs.jmedchem.3c01860. Epub 2024 Mar 11. J Med Chem. 2024. PMID: 38466661
Cellular and molecular signaling towards T cell immunological self-tolerance.
Carbone F, Russo C, Colamatteo A, La Rocca C, Fusco C, Matarese A, Procaccini C, Matarese G. Carbone F, et al. Among authors: fusco c. J Biol Chem. 2024 Apr;300(4):107134. doi: 10.1016/j.jbc.2024.107134. Epub 2024 Mar 2. J Biol Chem. 2024. PMID: 38432631 Free PMC article. Review.
Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.
Pegoraro F, Chinnici A, Beneforti L, Tanturli M, Trambusti I, De Fusco C, Micalizzi C, Barat V, Cesaro S, Gaspari S, Dell'Acqua F, Todesco A, Timeus F, Aricò M, Favre C, Tondo A, Coniglio ML, Sieni E; AIEOP Histiocytosis Working Group. Pegoraro F, et al. Among authors: de fusco c. Haematologica. 2024 Feb 22. doi: 10.3324/haematol.2023.283893. Online ahead of print. Haematologica. 2024. PMID: 38385274 Free article.
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Baga M, Ivanovski I, Contrò G, Caraffi SG, Spagnoli C, Cesaroni CA, Neri A, Peluso F, Pollazzon M, Garavelli L, Fusco C. Baga M, et al. Among authors: fusco c. Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8. Mol Syndromol. 2024. PMID: 38357260
393 results