Pubblicazioni

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease

2017 - HUMAN MOLECULAR GENETICS

Canterini, Sonia; Dragotto, Jessica; Dardis, Andrea; Zampieri, Stefania; DE STEFANO, Maria Egle; Mangia, Franco; Erickson, Robert P.; Fiorenza, Maria Teresa

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway

2017 - HUMAN MOLECULAR GENETICS

Petrillo, Sara; Pelosi, Laura; Piemonte, Fiorella; Travaglini, Lorena; Forcina, Laura; Catteruccia, Michela; Petrini, Stefania; Verardo, Margherita; D'Amico, Adele; Musaro', Antonio; Bertini, Enrico

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH:ubiquinone oxidoreductase Ndufc2 subunit

2017 - HUMAN MOLECULAR GENETICS

Raffa, Salvatore; Scrofani, Cristina; Valente, Sabatino; Micaloni, Andrea; Maurizio, Forte; Bianchi, Franca; Coluccia, Roberta; Geurts, Aron M; Sciarretta, Sebastiano; Volpe, Massimo; Torrisi, Maria Rosaria; Rubattu, Speranza Donatella

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

2017 - HUMAN MOLECULAR GENETICS

Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A. V.; Ruiz-Perez, V. L.