Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Parkinson's Disease Mechanisms and Treatments, Neurological disorders and treatments, Genetic Neurodegenerative Diseases, and Hereditary Neurological Disorders.
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
Therapeutic modalities of deferiprone in Parkinson's disease: SKY and EMBARK studies
Genetic Testing in Parkinson's Disease
Pepinemab antibody blockade of SEMA4D in early Huntington’s disease: a randomized, placebo-controlled, phase 2 trial
Assessing non-Mendelian inheritance in inherited axonopathies
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS)
Levodopa‐carbidopa intestinal gel in advanced Parkinson's disease: Final 12‐month, open‐label results
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset