23 results
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…
Primary Objectives: 1. Determine novel pathogenic gene mutations in families with congenital upper limb anomalies by whole genome sequencing;2. Determine the contribution of these genes in embryonic development, including proliferation and cell…
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.
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.
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.
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…
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.
Aim of this study is measuring the effects of locoregional anaesthesia in EDS patients and comparing these effects with those in a healthy control group. The results of this study can be used to make a more valid choice for the type of anaesthesia…
The purpose of this study is to further unravel the genetic origin of these individual diseases and their relation at genes level.
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?
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,…
To investigate whether children with OI who use a wheelchair (for long distances) can reliably perform a valid shuttle ride test in order to assess the levels of health-related fitness in this group.
To determine the contribution of musculoskeletal pain to activity limitations corrected for the impact biomechanical factors (joint biomechanics, proprioception, physical fitness) and psychological comorbidity. The secondary objective is to identify…
The primary objective of the study is to examine muscle atrophy in fetuses with single or bilateral IPEV, in comparison to a normal population by measuring the circumference of the upper and lower legs by ultrasound examination. The length of the…
Objectives: (1) To find out in which skin layer (epidermis or dermis) and which skin cell type the Gs* mutation resides.(2) To determine osteogenic transdifferentiation- and mineralization characteristics of osteogenic cells that result from…
The primary aim of this study is to document with quantified measurements the natural history of Duchenne Muscular Dystrophy. Several validated tools will be used to describe motor, orthopedic and respiratory functions, and quality of life along a 6…
The primary goal of the current research is to determine the accuracy of the procedure using patient-specific cutting guide. Secondary endpoints are surgical time needed and the guides* fit onto the patients* tibia.
Gaining an objective insight in muscle fatigue during exercise for patients with NMD by1. comparing the timing of change in sEMG amplitude and sEMG median frequency, to gas exchange variables, heart rate, work load, muscle strength, muscular…
A study of the in-vitro thermal stability of the ryanodine receptor-1 in patients with RYR1 variants
The primary objective is to investigate the effect of a variant in RYR1 on the thermal stability of RyR-1. The secondary objective of the study is to investigate whether there is difference in clinical characteristics between patients with a…
To investigate the differences in participation, motor abilities and function in more dynamic tasks between clubfoot patients with and without relapse and healthy controls.