134 results
To determine the safety and efficacy of Dimebon in patients with mild to moderate Huntington Disease
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…
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…
This study will consist of two parts. In the primary observational part we will assess kinematic and kinetic walking patterns in Duchenne Muscular Dystrophy. Goal is to asses the correlation between progressive contractures and gait patterns. This…
The purpose of this study is to increase our understanding of the meaning of myotonic dystrophy for both the person having the disease as well as for the next of kin as for both as a couple. An additional aim is to gain understanding of how these…
The objective of the study is to investigate the effect of PEEP ventilation with or without a recruitment maneuver on right ventricular afterload in infants undergoing cardiac surgery.
To show that an individually tailored treatment of the calf muscles with BTX-A promotes the balance capacity and mobility of HSP patients by an effective reduction of spasticity while preserving muscle strength. This explorative study uses a pre-…
Objective:This study has as its aim to examine the short-term effect of a robotic-facilitated play therapy within occupational therapy on the level of playfulness of children with developmental disabilities aged 2-16 years.
To develop valid and reproducible protocols to measure cardiorespiratory fitness (VO2peak and energy cost of locomotion) in ambulatory children with SB. These protocols will allow further studies regarding physical fitness in these children.
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…