Area of research
Molecular Biology · Genetics
Research interest
Research interests include Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Multiple Sclerosis Research Studies, and Cardiomyopathy and Myosin Studies.
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy
Machine learning classification of multiple sclerosis in children using optical coherence tomography
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy
Corneal nerve and nerve conduction abnormalities in children with type 1 diabetes
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Early corneal nerve fibre damage and increased Langerhans cell density in children with type 1 diabetes mellitus
Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Corneal confocal microscopy for identification of diabetic sensorimotor polyneuropathy: a pooled multinational consortium study
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Impact of an electronic monitoring device and behavioral feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial
The Role of <i>PIEZO2</i> in Human Mechanosensation
Myostatin inhibitor ACE‐031 treatment of ambulatory boys with Duchenne muscular dystrophy: Results of a randomized, placebo‐controlled clinical trial
<i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Cognitive and Behavioral Functioning in Childhood Acquired Demyelinating Syndromes