Publicaties
Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers Vrije Universiteit Brussel
Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations Vrije Universiteit Brussel KU Leuven Universiteit Gent
BACKGROUND: Bi-allelic CYP24A1 mutations can cause idiopathic infantile hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism disturbances. It is currently unclear if heterozygous carriers experience clinical problems or biochemical abnormalities. Our objective is to gain insight in the biochemical profile and health problems in CYP24A1 heterozygotes.
STUDY DESIGN: Cross-sectional evaluation of participants. ...
FDG-PET in presymptomatic C9orf72 mutation carriers Universiteit Antwerpen
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations KU Leuven Universiteit Antwerpen
Plasma neurofilament light for prediction of disease progression in familial frontotemporal lobar degeneration Universiteit Antwerpen KU Leuven
Understanding transmission dynamics for malaria control and elimination in Peru Instituut voor Tropische Geneeskunde
Two cross-sectional surveys that combined parasitological (PCR, microscopy) and ...
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort Universiteit Antwerpen KU Leuven
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping Vrije Universiteit Brussel
BACKGROUND: Patients with Brugada syndrome (BrS) and a history of syncope or sustained ventricular arrhythmia have longer right ventricular ejection delays (RVEDs) than asymptomatic BrS patients. Different types ofSCN5Avariants leading to different reductions in sodium current (INa) may have different effects on conduction delay, and consequently on electromechanical coupling (i.e., RVED). Thus, we investigated the genotype-phenotype ...