Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, and Parkinson's Disease Mechanisms and Treatments.
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD
Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids
Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in <i>C9orf72</i> among first-degree relatives of patients with ALS carrying the repeat expansion
Genetic variants associated with longitudinal changes in brain structure across the lifespan
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
<scp>MRI</scp> Clustering Reveals Three <scp>ALS</scp> Subtypes With Unique Neurodegeneration Patterns
Longitudinal Effects of Asymptomatic <i>C9orf72</i> Carriership on Brain Morphology
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
The Distinct Traits of the <i>UNC13A</i> Polymorphism in Amyotrophic Lateral Sclerosis
Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan
Dynamics of Brain Structure and its Genetic Architecture over the Lifespan
Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial
Amyotrophic lateral sclerosis as a multi-step process: an Australia population study
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Multicentre, cross-cultural, population-based, case–control study of physical activity as risk factor for amyotrophic lateral sclerosis
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects
C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis
Cortical thickness in ALS: towards a marker for upper motor neuron involvement
Subcortical structures in amyotrophic lateral sclerosis