Florencia Epifani
Investigador pre-doc
Research group
Professional network profiles
Last Publications
- Epifani F, Cabus, Lluc, Nolasco-Tovar GA, Bolasell M, Perez, Jennifer, Alcalá-San Martin A, Fernandez, Patricia, Lizano, Esther, Marquez, Gisela, Belmonte, Sonia, Carbonell-Sala, Silvia, Lagarde, Julien, Curado, Joao, Hernando-Davalillo C and Serrano M Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .
- Holubova V, Barone R, Grunewald S, Tesarová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P and Honzík T Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .
- Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study SCIENTIFIC REPORTS . 13(1): 22783-22783.
Projects
- Project name:
- TRI-VIAE: Exploración tridimensional de la epigenética en trastornos del neurodesarrollo: potencial diagnóstico, aplicabilidad en la clínica y descubrimiento de nuevas firmas epigenéticas.
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Serrano Gimaré, Mercedes, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI24/00482
- Starting - finishing date:
- 2025 - 2027
- Project name:
- Contratos predoctorales de formación en investigación en salud_Beneficiari: Florencia Epifani
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI22/00218
- Starting - finishing date:
- 2023 - 2026