Area of research
Genetics · Molecular Biology
Research interest
Research focused on Spinal muscular atrophy and Duchenne muscular dystrophy, with related work in Upper limb, Cerebral palsy, Atrophy. Notable publications include 'Clinical Variability in Spinal Muscular Atrophy Type III', 'Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data', and 'Sex differences in cerebral palsy on neuromotor outcome: a critical review'.
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Natural history of Becker muscular dystrophy: <i>DMD</i> gene mutations predict clinical severity
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
COVID-19 AND NEUROMUSCULAR DISEASES
Clinical Variability in Spinal Muscular Atrophy Type <scp>III</scp>
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
P.151Motor performances in exon-2 duplication of the dystrophin gene
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Sex differences in cerebral palsy on neuromotor outcome: a critical review