Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Parkinson's Disease Mechanisms and Treatments, and Neurological diseases and metabolism.
Clinical testing panels for ALS: global distribution, consistency, and challenges
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer’s Disease and Frontotemporal Dementia Disease Modeling
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features
Exome sequencing to identify de novo mutations in sporadic ALS trios
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Pathophysiological insights into ALS with C9ORF72 expansions