41 results
The purpose of this study is to find out which common problems occur in the HME patient population. Furthermore the study will investigate which factors are associated with the observed problems. This is barely investigated in the current literature…
The aim of our study is to further elucidate the role of genetic factors in the pathogenesis of CTS by genetic and functional research.-Objective 1: Unravel the mutational spectrum of genes in patients with idiopathic CTS-Objective 2: Evaluation of…
•To characterize the natural history and progression of DMD to help inform the design of future studies•To capture biomarkers of safety and disease progression•To provide comparative data for the development of rare exons for which formal controlled…
In one FOA family we have detected a deleterious mutation in a compelling gene which co-segregates with the FOA phenotype in the family. This mutation is, therefore, is likely to be causal to the early onset OA. The objective of the study is:a) To…
The objectives of this study are:1) to quantify the muscle symptoms, muscle complaints, limitations in daily living, fatigue, mood disorders, and quality of life in patients with Brody's syndrome.2) determining the genetic background of Brody…
The primary objective is to identify (epi)genetic and environmental disease modifying factors that contribute to the variable clinical phenotype of FSHD, in order to support the future development of new treatment strategies for FSHD. The secondary…
To perform 31P-MRS during and after exercise using a specifically designed probe to determine variations in energy metabolism along the TA muscle in healthy humans subjects.
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
the aim of the current research project is to investigate the effect of the mirror box illusion on movement performance, neuromuscular activation and proprioception in children with SHCP. The following objectives are: to determine the effect of the…
The main objective of our research is to develop an FCE for use in one-handed individuals. The main objective of this part of the study is to gain descriptive data on muscle tension of the back, neck and shoulder, joint movements of the shoulder,…
Primary Objective: To determine the prevalence of endo- and extranasal deformities, problems with nasal functioning and satisfaction with nasal appearance in patients with TCS.Secondary Objective: To adjust and improve the treatment of patients with…
The aim of this study is to explore the value and added value of a wrist unit that can be put in a flexion position (Flex-wrist, Otto Bock ®) and a wrist unit that can not only be put in a flexion position but can also move freely in a neutral…
1. Detection of the gene causing Primrose syndrome. 2. Study of molecular and cellular mechanisms leading to the various manifestations of Primrose syndrome.3. Increase our understanding of regulation of heterotopic human calcium depositions
To investigate the effect of different spinal mechanical loading conditions on (pre-existent) rotation in the normal nonscoliotic human spine in vivo.
a. analysis of the usefulness of new molecular biological techniques in the diagnostic process of short stature, especially the detection of small chromosomal anomalies.b. identification of genetic factors causing short stature or influencing the…
The purpose of this study is to further unravel the genetic origin of these individual diseases and their relation at genes level.
To investigate whether parents of children with adolescent idiopathic scoliosis have a significantly different neutral upright sagittal alignment compared to adult volunteers whose offspring does not have adolescent idiopathic scoliosis.
researchs aims- to assess the frequency of auto-immune disease in patients with dystrophia myotonica type II compared to patients with dystrophia myotonica type I- to assess the frequency of auto-antibody formation in patients with dystrophia…
To what extent does the resistance to stretch of spastic muscles differ from that of non-spastic ones?Does tendon transfer affect a muscle*s functional capacity?
Primary Objective: to investigate whether the variation of the number of lumbar vertebrae in humans is coded by the same genes which are responsible for this as well as in other mammals.