Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, and ATP Synthase and ATPases Research.
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients