61 results
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…
The core approach of our proposed project is to investigate three aspects of emotional recognition in the Möbius and congenital bilateral facial paralysis populations through observed facial expressions, and the possible link between them, as…
Our general objective is to find out whether impaired communication within networks of specific brain regions underlies the cognitive control- and social problems of individuals with NF1. It is very important to examine these relations in children…
The main objective is to understand the role of the noradrenergic system in human cognition by testing specific hypotheses about task performance in D*H patients. A secondary objective is to understand whether and how cognitive function is…
Objective 1To describe the course and underlying mechanisms of dysphagia in children with congenital myopathy (from 6 months to 12 years)Objective 2To formulate recommendations for early detection, diagnostic assessment , treatment and advices for…
The aims of the proposed study are (1) to test the reliability of knee moment-angle measurements, (2) to obtain insight how muscle and tendon characteristics in children with CP contribute to the limitations in range of motion (ROM) of the knee and…
The primary objective is to measure the availability of the PDE10A enzyme in Huntington*s Disease (HD)gene expansion carriers (HDGECs) by estimating and comparing the distribution volume (VT) of the radioligand [18F]MNI-659 in the striatum (caudate…
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 primary objective is to identify clinical outcome measures in OPMD patients to support the future development of treatment strategies for OPMD. The secondary objectives are:• To identify molecular biomarkers for OPMD in biofluids to monitor…
To investigate the potential value of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) on a 3 Tesla MRI system to visualize the spinal cord in SMA patients and to investigate motor connectivity in vivo in patients with SMA.
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…
Primary objective: To evaluate whether intellectual disability and facial dysmorphology are associated with an increased clinical diagnostic yield of genetic testing among patients with a psychiatric illness.Secondary objective: To investigate the…
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…
1. To quantify brain iron accumulation in patient with HD using quantitative susceptibility mapping (QSM) at ultrahigh field (7T) as compared to healthy controls (case-control design).2. To link QSM results with specific and well-known clinical CSF…
The primary objective:To identify fluid and radiological biomarkers, in IA carriers, AHD patients, and EoHD patients, that can be linked to clinical outcome measures. We aim to link longitudinal changes in these biomarkers to disease progression.…
Primary Objective: • To chart longitudinal disease progression rates for SPG7 and ARSACS by a multisite, prospective natural history study. Secondary Objective(s): • Development of a new clinical SPAX composite scale.• To identify (a combined set of…
Primary Objective- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dutch SCA1 mutation carriers. Secondary Objectives:- To quantify the annual change in disease-relevant clinical scales and…
Objective: The primary objective of this proposal is to develop new sensitive and quantitative outcome measures for clinical trials in LBSL. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.