Area of research
Neurology · Molecular Biology
Research interest
Research interests include Parkinson's Disease Mechanisms and Treatments, RNA Research and Splicing, RNA and protein synthesis mechanisms, and Neurological diseases and metabolism.
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
Genomewide Association Studies of <scp> <i>LRRK2</i> </scp> Modifiers of Parkinson's Disease
Novel variants broaden the phenotypic spectrum of <i>PLEKHG5</i>‐associated neuropathies
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study