37 results
Primary Objective: Identification of rare variants in candidate genes and regulatory elements in pediatric IBD patients. Secondary Objective(s): To determine the functional consequences of identified genetic variants in IBD, we will correlate…
By relating valid learning fMRI phenotypes to the earliest expression of psychopathology and response to non-pharmacological self-management treatment, the project will contribute to the new innovative field of practical neuroimaging in the earliest…
Primary ObjectiveTo assess in 20 adolescents with anorexia nervosa the cognitive flexibility in response to two computerised category learning tasks and compare these results to a age and gender matched control group. Task one will present pictures…
1. Identification of gene(s) causing RS. 2. Understanding of the molecular and cellular mechanisms leading to the various manifestations of RS.3. Enabling molecular diagnostics for RS.
We aim to identify biomarkers (from neuroimaging, eye tracking, EEG, cognition, biochemistry, proteomics, genomics) for stratification of ASD. Biomarkers will be crucial to aid more accurate and earlier diagnosis of ASD. They are also needed for…
To investigate motor connectivity in vivo in patients with SMA using MR- techniques for brain imaging.We will investigate connectivity of upper motor neurons in patients with SMA compared to disease controls (patients with myopathic disorders) and…
(i) To compare the DBF response to capsaicin between cystinosis patients, homozygous and heterozygous for the 57-kb deletion, and matched controls.(ii) To compare the skin sensitivity response after capsaicin application between cystinosis patients,…
1) To evaluate the feasibility and the acute effect of intra-operative cryoablation of the slow conducting anatomical isthmuses (endpoint bidirectional conduction block) and on the re-inducibility of monomorphic isthmus dependent VT. 2) To study the…
The main aim of the current study is to specify neurocognitive mechanisms behind rigid behaviour in autism. For this reason, participants will be required to execute a computer task, in which they will need to make their own choice of tasks, during…
To explore the complex interaction between environment, autoimmunity and genetics in relation to the onset and clinical course of tic disorders and associated obsessive-compulsive symptoms and to translate these findings into clinical applications.…
The aim of this protocol is threefold.1. To investigate associations between alcohol dependence with demographic data, psychiatric problems (e.g., compulsive symptoms in Obsessive Compulsive disorder, and ADHD)2. To investigate familial transmission…
Objective: Our general objective is to investigate the neurobiological substrates of a broader ADHD phenotype.
The primary objective to our study is assessing functional outcome, quality of life, and genetic mutations in patients with a cloacal malformation. Functional outcome:- Colorectal functiono Objective: assessing colorectal function through the use of…
The aim of this protocol is to invite the NeuroIMAGE cohort once more for a follow-up investigation and collect phenotypical, cognitive, and MRI data. This design offers the opportunity to examine by means of longitudinal phenotypic, cognitive, and…
To detect high-risk pathogenic mutations in germline DNA of children with childhood cancer that are suggestive of genetic predisposition, using NGS-based whole-exome sequencing, resulting in novel targets for future functional and translational…
The primary goal of this study is to evaluate the clinical long term results of patients with a forearm osteotomy and/or soft-tissue procedures to correct a supination deformity. Furthermore we will try to identify association between functional…
The primary objectives are: 1. To assess BBB integrity in MPS IIIB patients by estimating the CSF AI.2. To determine the BBB transfer coefficient by DCE-MRI in MPS IIIB patients.The secondary objectives are: 1. To describe the relationship between…
Cognitive testing in a structured and standardized way at a defined group of patients with cognitive dysfunction, with a shared molecular etiology .The intended objectives are:- Detailed human neurocognitive profile defining for each genetic defect…
Our first aim is to find the cause of lymphatic dysplasia in children. The subsequent aim is to study the pathogenesis of the entity. The final aim is to increase our understanding of regulation of lymph vessel formation in man.
1) to gain insight in the pathophysiological mechanisms leading to intellectual disability and 2) to create a model system which allows screening of therpeutic interventions for efficacy.