Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Spinal muscular atrophy, SMA*, SMN1, Swallowing, and Intensive care medicine.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
SMA valiant trial: A prospective, double‐blind, placebo‐controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
Nutritional Practices at a Glance
Consensus Statement on Standard of Care for Congenital Myopathies