Maurizio De Fusco

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

Maurizio De Fusco, Roberto Marconi, Laura Silvestri et al. · Nature Genetics · 2003 · 939 citations

Molecular Neuroscience, Molecular Physiology, Neurophysiology +10

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 824 citations · Full text

Mitochondrial Function, Oxphos Impairment, Genetics +10

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon, Carla Marini, Chiara Di Resta et al. · The American Journal of Human Genetics · 2006 · 246 citations · Full text

Nocturnal Wandering, Synaptic Plasticity, Neurobiological Mechanism +14

Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

Loredana Leo, Lisa Gherardini, Virginia Barone et al. · PLoS Genetics · 2011 · 218 citations · Full text

Neurological Disorder, Synaptic Transmission, Key Migraine Trigger +31

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Renzo Guerrini, Paolo Bonanni, Nardo Nardocci et al. · Annals of Neurology · 1999 · 157 citations