Browsing by Author Macchioni, Lara
Showing results 1 to 3 of 3
Issue Date | Title | Author(s) |
2016 | A Calsequestrin-1 mutation associated with a skeletal muscle disease alters sarcoplasmic Ca2+ release | D'Adamo, Maria Cristina; Sforna, Luigi; Visentin, Sergio; Grottesi, Alessandro; Servettini, Ilenio; Guglielmi, Luca; Macchioni, Lara; Saredi, Simona; Curcio, Maurizio; Nuccio, Chiara de; Hasan, Sonia M.; Corazzi, L.; Franciolini, Fabio; Mora, Marina; Catacuzzeno, Luigi; Pessia, Mauro |
2017 | A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia | Hasan, Sonia M.; Bove, Cecilia; Silvestri, Gabriella; Mantuano, Elide; Modoni, Anna; Veneziano, Liana; Macchioni, Lara; Hunter, Therese; Hunter, Gary J.; Pessia, Mauro; D'Adamo, Maria Cristina |
2017 | Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay | Hasan, Sonia M.; Balobaid, Ameera; Grottesi, Alessandro; Dabbagh, Omar; Cenciarini, Marta; Rawashdeh, Rifaat; Al-Sagheir, Afaf; Bove, Cecilia; Macchioni, Lara; Pessia, Mauro; Al-Owain, Mohammed A.; D'Adamo, Maria Cristina |