Area of research
Neurology · Physiology
Research interest
Research interests include Amyotrophic lateral sclerosis, Frontotemporal dementia, Biology, C9orf72, Genetics, and Medicine.
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat Expansion
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
<i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Loss of <i>TBK1</i> is a frequent cause of frontotemporal dementia in a Belgian cohort
Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia
Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
Promoter DNA methylation regulates progranulin expression and is altered in FTLD
Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients
A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats