Stefania Fiori
Università Cattolica del Sacro Cuore(IT)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, RNA Research and Splicing, RNA Interference and Gene Delivery
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy(2017)61 cited
- → SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR(2009)54 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
- → SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples(2021)28 cited
- → Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?(2023)20 cited
- → Longitudinal assessments in discordant twins with SMA(2017)11 cited