Area of research
Physiology · Rheumatology
Research interest
Research focused on Glycosylation and Sanger sequencing, with related work in Duchenne muscular dystrophy, Limb-girdle muscular dystrophy, Enzyme replacement therapy. Notable publications include 'Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials', 'Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel', and 'A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy'.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18–19 <scp>A</scp>pril 2013, <scp>C</scp>harlotte, <scp>USA</scp>
Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel