154 results
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 objective of the study is two-fold:First, we want to improve the design of the study for future extension, by critical evaluation of the efficacy, the instruments used and the outcome measures. Second, we want to assess the cognitive and…
The objective is to determine the disease severity in genetically proven CMT1A/HNPP patients and to correlate this with sequence variants in CMT and immunity related genes. Identification of genotype-phenotype correlations in CMT1A will allow…
1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
The objective of the study is to investigate the long-termeffects of lithium on the development of children who are exposed to lithium during pregnancy.
identification of the needs of families with juvenile Huntington's disease
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
To obtain skin biopsies of healthy volunteers for scientific research.
By studying in which cases what decisions has been made we hope to get more insight into the interpretation of the requirements of the Ministry in everyday practise. Furthermore, it is important to know how all persons involved and especially the…
Now that we have identified the gene underlying the vl mutation and have strong candidates for its genetic modifiers in mouse, we want to investigate their role in human spina bifida. Therefore, our aim is to test GPR161 and its modifier loci for…
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 assess in moderate preterm infants:1) The prevalence and characteristics of brain injury; 2) The relation between perinatal factors and brain injury;3) The validity of cUS for detection of brain injury as compared to MRI (considered the golden…
to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA.
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.