| PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity F Fruscione, P Valente, B Sterlini, A Romei, S Baldassari, M Fadda, ... Brain 141 (4), 1000-1016, 2018 | 123 | 2018 |
| CHD2 mutations are a rare cause of generalized epilepsy with myoclonic–atonic seizures M Trivisano, P Striano, J Sartorelli, L Giordano, M Traverso, P Accorsi, ... Epilepsy & Behavior 51, 53-56, 2015 | 47 | 2015 |
| TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons D Aprile, F Fruscione, S Baldassari, M Fadda, D Ferrante, A Falace, ... Cell Death & Differentiation 26 (11), 2464-2478, 2019 | 39 | 2019 |
| Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques M Martino, J Sartorelli, V Gragnaniello, A Burlina Frontiers in Pediatrics 10, 901338, 2022 | 11 | 2022 |
| Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms J Sartorelli, L Travaglini, M Macchiaiolo, G Garone, MV Gonfiantini, ... Genes 15 (4), 508, 2024 | 1 | 2024 |
| POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy A De Dominicis, F Stregapede, VL Colona, F Nicita, J Sartorelli, ... Seizure: European Journal of Epilepsy 121, 141-146, 2024 | | 2024 |
| De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation J Sartorelli, L Travaglini, VL Colona, C Casali, F Cumbo, A D’Amico, ... The Cerebellum, 1-6, 2024 | | 2024 |
| Acute Ophthalmoplegia with Wernicke‐Like MRI Pattern in a Patient with HPDL‐Related Disorder J Sartorelli, D Longo, L Travaglini, V Orlando, A D'Amico, E Bertini, ... Movement Disorders Clinical Practice, 2024 | | 2024 |
| Differentiation of human induced pluripotent stem cells (hiPSC) into functional neurons to model PRRT2-related disorders F Fruscione, P Valente, S Baldassari, G Giansante, J Sartorelli, P Baldelli, ... HUMAN GENE THERAPY 27 (11), A78-A78, 2016 | | 2016 |
