Area of research
Genetics · Molecular Biology
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, RNA modifications and cancer, and Cardiomyopathy and Myosin Studies.
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Real-world evidence on nusinersen treatment of persons with SMA: a focused review.
Ad astra per aspera: treatment challenges and opportunities for children with spinal muscular atrophy and tracheostomy.
Author Correction: High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.
Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial.
High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study
Current clinical applications of AAV-mediated gene therapy
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
Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial
In utero therapy for spinal muscular atrophy: closer to clinical translation.
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of
<i>PMP22</i>
Variants
Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry.
A novel CEST-based approach for reliably assessing skeletal muscle oxidative phosphorylation: OXCEST
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016
Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the<scp>NURTURE</scp>study