Area of research
Genetics · Molecular Biology
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, and Cardiomyopathy and Myosin Studies.
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
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
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
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling