Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Hereditary Neurological Disorders, Cerebral Palsy and Movement Disorders, and Muscle Physiology and Disorders.
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
FIREFISH parts 1 and 2: 4-year efficacy and safety of risdiplam in type 1 spinal muscular atrophy
FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) (P7-9.009)
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
Risdiplam in Type 1 Spinal Muscular Atrophy
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases
Evaluator Training and Reliability for SMA Global Nusinersen Trials
Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Reference values for developing responsive functional outcome measures across the lifespan
Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial
Repeatability, consistency, and accuracy of hand‐held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults
Normative reference values for strength and flexibility of 1,000 children and adults
1000 Norms Project: protocol of a cross-sectional study cataloging human variation
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
Consensus Statement on Standard of Care for Congenital Myopathies