Area of research
Neurology · Genetics
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, and Genetic Neurodegenerative Diseases.
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
A <i>VAPB</i> (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report
Mechanism-free repurposing of drugs for 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
Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Genetic variability in sporadic amyotrophic lateral sclerosis
<i>UNC13A</i>in amyotrophic lateral sclerosis: from genetic association to therapeutic target
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
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
Clinical testing panels for ALS: global distribution, consistency, and challenges
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1
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
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
<i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
The Effect of <scp><i>SMN</i></scp> Gene Dosage on <scp>ALS</scp> Risk and Disease Severity
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
Looking for a research collaborator?
Search millions of scientists by field, institution, impact, and funding status — see their work, find their email, and reach out directly.
Find collaborators in Neurology · Genetics →