Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Biology, Zebrafish, Myelin, Spinal muscular atrophy, Cerebellar hypoplasia (non-human), and Acyl CoA dehydrogenase.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy