Area of research
Molecular Biology · Genetics
Research interest
Research focused on Duchenne muscular dystrophy and Placebo, with related work in Genetics, Clinical endpoint, Phenotype. Notable publications include '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', and 'Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region'.
Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
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
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region