Neuromuscular Medicine Specialist
My key research interests include phenotypic characterization, phenotype-genotype correlations and pathogenic mechanisms in genetically induced cerebellar ataxias and muscular dystrophies. In addition, I also am interested in developing assessment methods, biomarker discovery and therapeutic modalities for such diseases.
A Global Phase 3 Open-Label Extension Study to Assess the Long-Term Safety, Tolerability, and Efficacy of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC for the Treatment of Myotonic Dystrophy Type 1
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich's Ataxia, also known as FA. This is known as an…
196 publications
2026
Muscle & nerve
PubMed • Publisher's site2026
Journal of neuromuscular diseases
PubMed • Publisher's site2026
Movement disorders clinical practice
PubMed • Publisher's site2026
Annals of Clinical and Translational Neurology
Publisher's site2026
The Journal of neuropsychiatry and clinical neurosciences
PubMed • Publisher's site