Area of research
Genetics · Molecular Biology
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Nerve injury and regeneration, and Nutrition and Health in Aging.
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
Evaluator Training and Reliability for SMA Global Nusinersen Trials
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Reliability of functional outcome measures in spinal muscular atrophy: Results from multi-centered, global, phase 3 clinical trials (S13.004)
Revised upper limb module for spinal muscular atrophy: Development of a new module
Severe congenital <i>RYR1</i> -associated myopathy