Browsing by Author Brusco, Alfredo
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 20-Aug-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora |
| 1-Jan-2020 | Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | Pavinato, Lisa; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffrè, Mario; Ranguin, Kara; Colson, Cindy; De Rubeis, Silvia; Villamor Payà, Marina; Dimartino, Paola; Buxbaum, Joseph D.; Ferrero, Giovanni Battista; Tartaglia, Marco; Martinelli, Simone; Stracker, Travis H.; Brusco, Alfredo; Sanchiz Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro |