Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetics, Missense mutation, Biology, Mutation, Dystonia, and Ataxia.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Characterization of Recessive Parkinson Disease in a Large Multicenter Study
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Large-scale replication and heterogeneity in Parkinson disease genetic loci