Informazioni principali
Perché partecipare
| Orario | Titolo | Relatore |
|---|---|---|
| 10:30–10:45 | Registrazione dei partecipanti e saluti | — |
| 10:45–13:00 | Morning session | Chairperson: C. Lanzuolo — R. Veltrop |
| 10:45–11:15 | Respiratory night events in congenital skeletal laminopathies (L-CMD) in the absence of significant respiratory insufficiency require attention and further studies | S. Quijano-Roy — Parigi |
| 11:15–11:45 | Advanced human iPSC-based modelling of LMNA-related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies | F. S. Tedesco — Londra |
| 11:45–12:00 | ESCRT-III-dependent Nuclear Envelope Reformation Requires the ESCRT-I-like AKTIP | I. Saggio — Roma |
| 12:00–12:15 | Modelling Emery-Dreifuss muscular dystrophy in 3D human engineered heart tissues | M. Sorge — Torino |
| 12:15–12:30 | Distinct LMNA mutation effects in iPSC-cardiomyocyte subtypes unveil LMNA cardiomyopathy mechanisms | C. Ronchi — Milano |
| 12:30–12:45 | MLIP dysregulation affects chromatin organization and transcriptional regulation during muscular differentiation | G. Lembo — Milano |
| 12:45–14:00 | Light Lunch | Hotel Cavour |
| 14:00–17:00 | Afternoon session | Chairperson: M. R. D'Apice |
| 14:00–14:30 | Anchoring Heterochromatin, Preserving Muscle: The Role of Prdm16 | C. Mozzetta — Roma |
| 14:30–14:45 | Autoimmune Features in LMNA-Associated Familial Partial Lipodystrophy | G. Ceccarini — Pisa |
| 14:45–15:00 | Genotype and clinical expansion of MADaM syndrome | C. Santoro — Napoli |
| 15:00–15:15 | A new case of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by POLD1 gene | F. Besagni — Bologna |
| 15:15–15:30 | Coffee Break | — |
| 15:30–15:45 | X-linked Emery Dreifuss muscular dystrophy: a multicenter, Italian, cohort study — Update | E. Giacopuzzi — Milano |
| 15:45–16:10 | Progetti associazioni pazienti | AIPROSAB — Laura e Amerigo Basso (Tezze su Brenta) Associazione Alessandra Proietti — Claudio e Irene Proietti (Roma) AIDMED — Eleonora Cugudda (Torino) |
| 16:10–16:25 | International Meeting on Laminopathies, Paris May 21–24, 2025 — State of the Art of the European Network for Laminopathies | G. Lattanzi — Bologna |
| 16:25–16:55 | Discussione finale e consegna del premio NIL 2025 | General discussion and NIL award 2025 |
| 17:00 | End of Meeting | — |
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