51 results
To quantify muscle relaxation properties of fingerflexors using transcranial magnetic stimulation in patients with different myopathies to develop a screening diagnostic tool to assess who does (not) suffer from an underlying myopathy.
Gaining an objective insight in muscle fatigue during exercise for patients with FSHD by 1. comparing the timing of change in sEMG amplitude and sEMG median frequency, to gas exchange variables, heart rate, work load and blood lactate levels during…
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…
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…
To develop and examine the test-retest reliability of a wheelchair skills test for children
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…
The purpose of this study is to examine the feasibility of both the CPET and the 6MWT as outcome measures for exercise capacity in children with DMD and BMD. This study will focus on ambulatory children with DMD and BMD. These patients frequently…
the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…
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…
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…
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
Objective: This study aims to investigate, whether children with clubfeet are facing difficulties in daily life on activity*s and participation, two domains of the ICF, comparing to their age-mates without clubfeet.
To investigate the effect of different spinal mechanical loading conditions on (pre-existent) rotation in the normal nonscoliotic human spine in vivo.
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…
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 compare two different braces in idiopatic scoliosis, by means of body brace interface pressure measurements and conventional spinal x-rays (anterior-posterior).
To obtain the reproducibility of the standing posture using with Der Wippe, a balancing device, with adjustable holder and acquire the 3D ultrasound of the spine of scoliotic patients
The purpose of this study is to further unravel the genetic origin of these individual diseases and their relation at genes level.