Emanuela Abiusi
Università Cattolica del Sacro Cuore(IT)University of the Sacred Heart(JP)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Head and Neck Cancer Studies, Cardiomyopathy and Myosin Studies, Circular RNAs in diseases
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome(2020)387 cited
- → Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death(2021)131 cited
- → Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita(2021)62 cited
- → Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy(2017)61 cited
- → Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study(2012)41 cited
- → Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1(2015)40 cited
- → Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol(2018)40 cited
- → Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis(2022)37 cited
- → Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening(2022)37 cited