Rosaria Vavassori
European Patent Organisation(DE)Istituto Euro Mediterraneo di Scienza e Tecnologia(IT)
Publications by Year
Research Areas
Ion Transport and Channel Regulation, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research, Hereditary Neurological Disorders, Cardiac electrophysiology and arrhythmias
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients(2015)153 cited
- → Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults(2010)143 cited
- → Biobanking from the patient perspective(2015)84 cited
- → Cardiac phenotype in ATP1A3 -related syndromes(2020)43 cited
- → Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype(2015)41 cited
- → Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients(2011)26 cited
- → Alternating hemiplegia of childhood: evolution over time and mouse model corroboration(2021)16 cited
- → ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias(2025)8 cited
- → Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene(2023)6 cited