63 results
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
The frontotemporal syndrome in amyotrophic lateral sclerosis: screen, impact, imaging and pathology.
The main objectives are: 1. to develop a diagnostic tool for the assessment of the frontotemporal syndrome. 2. To investigate the structural and functional brain networks of ALS patients with and without a frontotemporal syndrome, in order to gain…
To study the role of brain metabolites and macromolecules in relationship to pathogenesis, structural brain changes and clinical phenotype of ALS. This will reveal underlying molecular mechanisms of pathogenesis, structural brain changes and…
To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.
To investigate motor connectivity in vivo in patients with SMA using MR- techniques for brain imaging.We will investigate connectivity of upper motor neurons in patients with SMA compared to disease controls (patients with myopathic disorders) and…
Primary:- To identify causal genetic variants and proteomes involved in achalasia and to study their relevanceSecundary:- To build-up a large scale harmonized biobank of achalasia patients, based on combining existing and new data from the European…
1. To determine the reproducibility of the ECWT and the 6MWT to assess the physical strain of walking in patients with PPS and in healthy control subjects.2. To evaluate the one-year course of the physical strain of walking among patients with PPS…
To investigate whether the CVS patients show the muscle membrane disturbances, as the FMS patients do. That is, are there muscle conduction velocities disturbances in the CVS patients?
PrimaryTo investigate the inter-rater and intra-rater variability of a novel neurophysiological measurement (Motor Unit Number Index, MUNIX) for estimation of functioning motor units, in healthy controls and ALS patientsSecondaryTo evaluate the…
In this study we want to investigate if relaxation time (RT) measured by handgrip myometry and muscle- elastography is a reliable outcome measurement for the quantification of myotonia in NDM patients. Mean RT values en standard deviations of NDM…
Does mitochondrial dysfunction play an important role in the pathofysiology of patients with Complex Regional Pain Syndrome Type I ?
2.1 Primary Objectives: 1) To test the feasibility of the six minute assisted leg and arm cycling test in patients aged 6-18 years with Duchenne muscular dystrophy (DMD), Beckers muscular dystrophy (BMD), Limb Girdle muscular dystrophy (LGMD),…
To evaluate the long term changes in quadriceps muscle function in patients with PPS in comparison with control subjects. To correlate changes in muscle strength, functioning and symptoms with changes in motor unit size. To evaluate long-term…
1) Identify and further explore the structural and functional brain alterations in ALS patients, PSMA patients annd PLS patients in comparison to healthy controls and ALS mimic sydromes, both cross-sectional and longitudinal; 2) Explore anatomical…
The objective is to describe the nature and underlying (neuromuscular en biomechanical) factors of dysphagia in different neuromuscular diseases in relation to different consistencies of food. Identifying the contributing factors are starting points…
The two objectives of our study are:(i) to develop a disease model using stem cells, with which further research into the underlying disease mechanisms of ALS and future therapies can be done(ii) genetic modification of stem cells to correct or…
Primary ObjectiveTo evaluate the effect of a tailored behavioral change intervention comprising CBT and physical activity on participation (as measured by the DM1-Activ scale) for severely fatigued patients with myotonic dystrophy type 1 compared to…
The main objective of this study is to compare DTI findings of PPS patients with those of healthy controls. Secondary objective of this study is to correlate DTI findings with clinical data such as isometric muscle strength. Third objective is to…
Primary:To investigate the presence of disease-specific antimyenteric antibodies and to identify their target-antigen in patients with achalasia.Secondary:- To determine to what extent humoral autoimmunity is the etiological factor in idiopathic…
The aim of this study is to develop an immortalised B-cell line derived from MG patients. This antibody producing cell line will be used for different applications:- The establishment of new passive transfer disease models for MG- The identification…