MOSCHETTI, MARTA
MOSCHETTI, MARTA
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.
Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations
2025 Venezia, M.; Vinci, M.; Colomba, P.; Zizzo, C.; Duro, G.; Moschetti, M.
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.
VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies
2025 Corrao, S.; Moschetti, M.; Scibetta, S.; Calvo, L.; Giardina, A.; Cangemi, I.; Zizzo, C.; Colomba, P.; Duro, G.
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.
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
| 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. | |
| Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations | 1-gen-2025 | Venezia, M.; Vinci, M.; Colomba, P.; Zizzo, C.; Duro, G.; Moschetti, M. | |
| 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. | |
| VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies | 1-gen-2025 | Corrao, S.; Moschetti, M.; Scibetta, S.; Calvo, L.; Giardina, A.; Cangemi, I.; Zizzo, C.; Colomba, P.; Duro, G. | |
| 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. | |
| 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 |