20 results
To investigate the underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…
Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
The aims of this study are the ascertainment, characterization, and longitudinal follow-up of a large cohort of Dutch families segregating Parkinson*s disease, including affected and unaffected first-degree relatives. The cohort will be…
1. To identify presymptomatic and symptomatic profiles including (early) disease stages and early biomarkers of disease progression and to elucidate pathophysiological mechanisms, we will investigate RVCL patients at different ages (both symptomatic…
To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly
The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
1. To assess neuroimaging hallmarks of RVCL disease stages;2. To evaluate cerebrovascular reactivity as a biomarker of endothelial (dys)function in RVCL patients, in migraine patients and healthy controls;3. To identify shared pathophysiological…
The overall aim of this study is to investigate the pathophysiology of ICH by investigating intracerebral hemorrhage in HCHWA-D patients. By investigating triggers for ICH, hematoma expansion, recurrence rate and outcome in HCHWA-D related ICH we…
Our objective is to obtain insight into whether and how the visual and auditory systems of hemispherectomized patients have adapted after brain damage and brain surgery in early life. For this purpose we will perform psychophysical tests and (…
The goal of this research project comprises two important components that are intricately related:1) To define the pathophysiological state of the peripheral motor pathway in patients with SMA and to determine the contribution of the constituting…
The primary objective is to study the association between maternal TL and the risk of SB in offspring. The secondary objectives are to investigate the relation between maternal TL and obstetrical (pregnancy course and outcome), environmental risk…
The main objective of the study is to investigate MEG-based hippocampal and whole brain neuronal hyperactivity in preclinical DIAD mutation carriers and to find proof-of-concept for the translatability of findings from preclinical AD mouse models to…
Our main goal is to develop an in vitro model to investigate the function of wildtype and mutant KDM2B in neuronal development. We want to use this model to investigate genotype-phenotype correlations, elucidate isoform expression in neuronal…
Primary Objectives: 1. To assess the metabolic profile of patients with Dravet syndrome and identify metabolic variations that contribute to the pathophysiology of seizures and developmental delaySecondary Objectives:2. To assess the association…
To evaluate to what extent primary headache disorders are caused by genetic factors and to identify genes and pathways involved in the pathophysiology of these disorders.
Identifying the genotype-phenotype-imaging correlates in GBA mutation carriers with and without Parkinson*s disease using functional and structural magnetic resonance imaging (MRI).
To investigate plasticity in the visual cortex in NF1 patients, we will compare the VEPs evoked by checkerboard reversals at baseline and after a modulation block at T1, T2 and T3 of NF1 patients with those of controls.
To study oxidative metabolism in arm muscles of children and adults with SMA type 3 by using 31-Phosphorus Magnetic Resonance Spectroscopy.
The primary objectives is to determine the difference in cortical inhibition and cortical plasticity between NF1 patients and unaffected controls.