GIACOMARRA, MIRIAM
GIACOMARRA, MIRIAM
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
2025 Moschetti, M.; Venezia, M.; Giacomarra, M.; Marsana, E. M.; Zizzo, C.; Duro, G.; D'Errico, A.; Colomba, P.; Duro, G.
Identification of Novel Mutations in Patients Affected by Gaucher Disease
2025 Anania, Monia; Giacomarra, Miriam; D'Errico, Annalisa; Marano, Massimo; Tartaglione, Immacolata; Spada, Marco; Pagliardini, Veronica; De Paolis, Maria Rosaria; Giuffrida, Gaetano; Duro, Giulia; Di Chiara, Tiziana; Francofonte, Daniele; Marsana, Emanuela Maria; Colomba, Paolo; Duro, Giovanni; Zizzo, Carmela
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders
2025 Vinci, M.; Zizzo, C.; Moschetti, M.; Giacomarra, M.; Anania, M.; Duro, G.; Di Chiara, T.; Russo, M.; Messina, E.; Colomba, P.; Duro, G.
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
2024 Giacomarra, M.; Colomba, P.; Francofonte, D.; Zora, M.; Caocci, G.; Diomede, D.; Giuffrida, G.; Fiori, L.; Montanari, C.; Sapuppo, A.; Scortechini, A. R.; Vitturi, N.; Duro, G.; Zizzo, C.
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study
2024 Moschetti, M; Lo Curto, A; Giacomarra, M; Francofonte, D; Zizzo, C; Messina, E; Duro, G; Colomba, P.
Effects of Inhibition of IKK Kinase Phosphorylation On the Cellular Defence System and HSP90 Activity
2023 Giacomarra, Miriam; La Torre, Martina; Montana, Giovanna
Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion
2023 Marotto, Daniela; Moschetti, Marta; Lo Curto, Alessia; Spezzigu, Anna M.; Giacomarra, Miriam; Marsana, Emanuela M.; Zizzo, Carmela; Duro, Giovanni; Colomba, Paolo
Bone morphogenetic protein 4 system expression in human coronary artery endothelial and smooth muscle cells under dynamic flow: effect of medicated bioresorbable vascular scafolds at low and normal shear stress
2022 Cabiati, M.; Giacomarra, M.; Fontanini, M.; Cecchettini, A.; Pelosi, G.; Vozzi, F.; Del Ry, S.
The Keap1 signaling in the regulation of HSP90 pathway
2022 Bonura, A; Giacomarra, M; Montana, G
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease | 1-gen-2025 | Moschetti, M.; Venezia, M.; Giacomarra, M.; Marsana, E. M.; Zizzo, C.; Duro, G.; D'Errico, A.; Colomba, P.; Duro, G. | |
| Identification of Novel Mutations in Patients Affected by Gaucher Disease | 1-gen-2025 | Anania, Monia; Giacomarra, Miriam; D'Errico, Annalisa; Marano, Massimo; Tartaglione, Immacolata; Spada, Marco; Pagliardini, Veronica; De Paolis, Maria Rosaria; Giuffrida, Gaetano; Duro, Giulia; Di Chiara, Tiziana; Francofonte, Daniele; Marsana, Emanuela Maria; Colomba, Paolo; Duro, Giovanni; Zizzo, Carmela | |
| Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders | 1-gen-2025 | Vinci, M.; Zizzo, C.; Moschetti, M.; Giacomarra, M.; Anania, M.; Duro, G.; Di Chiara, T.; Russo, M.; Messina, E.; Colomba, P.; Duro, G. | |
| Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis | 1-gen-2024 | Giacomarra, M.; Colomba, P.; Francofonte, D.; Zora, M.; Caocci, G.; Diomede, D.; Giuffrida, G.; Fiori, L.; Montanari, C.; Sapuppo, A.; Scortechini, A. R.; Vitturi, N.; Duro, G.; Zizzo, C. | |
| Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study | 1-gen-2024 | Moschetti, M; Lo Curto, A; Giacomarra, M; Francofonte, D; Zizzo, C; Messina, E; Duro, G; Colomba, P. | |
| Effects of Inhibition of IKK Kinase Phosphorylation On the Cellular Defence System and HSP90 Activity | 1-gen-2023 | Giacomarra, Miriam; La Torre, Martina; Montana, Giovanna | |
| Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion | 1-gen-2023 | Marotto, Daniela; Moschetti, Marta; Lo Curto, Alessia; Spezzigu, Anna M.; Giacomarra, Miriam; Marsana, Emanuela M.; Zizzo, Carmela; Duro, Giovanni; Colomba, Paolo | |
| Bone morphogenetic protein 4 system expression in human coronary artery endothelial and smooth muscle cells under dynamic flow: effect of medicated bioresorbable vascular scafolds at low and normal shear stress | 1-gen-2022 | Cabiati, M.; Giacomarra, M.; Fontanini, M.; Cecchettini, A.; Pelosi, G.; Vozzi, F.; Del Ry, S. | |
| The Keap1 signaling in the regulation of HSP90 pathway | 1-gen-2022 | Bonura, A; Giacomarra, M; Montana, G |