40 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…
Patients with chronic respiratory failure currently start their ventilatory support in hospital as stated in national guideline. However, as these patients are severely disabled, a stay at the hospital for several days is experienced by many as very…
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…
The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).
To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly
(1) Identification of novel loci and genes in which mutations are responsible for the development of inherited epileptic syndromes. (2) Establishing genotype-phenotype correlations; defining the yield of mutation screenings in specific patient…
1) What is the long-term course of tics and comorbid OCD, ADHD and Quality of life in patients with GTS? 2) What are determinants of favourable versus unfavourable course?
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…
We want to investigate if it is possible to set up the entire process of home mechanical ventilation outside the hospital. This means practically that the patients will not be admitted to the hospital. The goal of this study is to answer the…
Primary objective: To determine whether the short-term neurological outcome of surviving children diagnosed with prenatally diagnosed ventriculomegaly is associated with the extent of VM before birth.Second objective: To determine whether the…
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 main research questions are:1a. What are the functional status on all levels of ICF and quality of life of adults with DMD?1b. What are determinants of functional status and quality of life?2a. What are burden of care and quality of life of…
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.