Area of research
Neurology · Genetics
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis Research, and Muscle Physiology and Disorders.
Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial
A toolkit for new facioscapulohumeral muscular dystrophy trial sites
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
593PLongitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
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
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the<scp>NURTURE</scp>study
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
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
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
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
COVID-19 AND NEUROMUSCULAR DISEASES
Guidelines on clinical presentation and management of nondystrophic myotonias
Clinical Variability in Spinal Muscular Atrophy Type <scp>III</scp>
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
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.
Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study
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