| 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 |
| 2016 | Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy | Sicca, Federico; Ambrosini, Elena; Marchese, Maria; Sforna, Luigi; Servettini, Ilenio; Valvo, Giulia; Brignone, Maria Stefania; Lanciotti, Angela; Moro, Francesca; Grottesi, Alessandro; Catacuzzeno, Luigi; Baldini, Sara; Hasan, Sonia M.; D'Adamo, Maria Cristina; Franciolini, Fabio; Molinari, Paola; Santorelli, Filippo Maria; Pessia, Mauro |
| 2016 | KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability | Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary Bandary; Hasan, Sonia M.; Muccioli, Maria; Almutairi, Faten B.; Almass, Rawan; Aldosary, Mazhor S.; Monies, Dorota Marta; Mustafa, Osama M.; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Ewa A.; Binhumaid, Faisal S.; Qari, Alya A.; Almutairi, Fatema; Meyer, Brian Francis; Plageman, Timothy F.; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed A. |
| 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 |
| 2015 | New insights into the pathogenesis and therapeutics of episodic ataxia type 1 | D'Adamo, Maria Cristina; Hasan, Sonia M.; Guglielmi, Luca; Servettini, Ilenio; Cenciarini, Marta; Catacuzzeno, Luigi; Franciolini, Fabio |
