Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Renal cell carcinoma treatment, and Parkinson's Disease Mechanisms and Treatments.
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <scp>ALS</scp>
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Genetic variability in sporadic amyotrophic lateral sclerosis
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
The Interaction between <scp><i>HLA‐DRB1</i></scp> and Smoking in Parkinson's Disease Revisited
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
The Effect of <scp><i>SMN</i></scp> Gene Dosage on <scp>ALS</scp> Risk and Disease Severity
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
UK case control study of smoking and risk of amyotrophic lateral sclerosis
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
C9orf72 intermediate expansions of 24–30 repeats are associated with ALS
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
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