Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Neurological diseases and metabolism, Parkinson's Disease Mechanisms and Treatments, Hereditary Neurological Disorders, and Genetic Neurodegenerative Diseases.
Muscle biopsy in myositis: What the rheumatologist needs to know
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity