56 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 objectives: 1. Does vitamin D supplementation improve depressive symptoms in older persons? 2. Does vitamin D supplementation improve physical performance and functional limitations in older persons?Secondary objectives: 3. Does vitamin D…
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…
- To study the clinical characteristics and disease course of patients with LEMS with or without SCLC- To identify the characteristics of the humoral or cellular immune response that are associated with the prolonged survival of patients with SCLC…
The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).
1. To investigate the possible relationship between amount of dystrophin expression and clinical severity of BMD2. To investigate the relationship between specific BMD-gene mutations and clinical severity of BMD3. To investigate possible other…
The primary objective of this proof of principle study is to determine the effect of levosimendan on the strength and endurance of the diaphragm in healthy subjects. The secondary objective is to gain insight in the neural activation and efficiency…
The primary objective is to determine whether the diaphragm develops contractile fatigue during a weaning trial and if this is associated with weaning failure. Furthermore, the hypothesis whether diaphragm efficiency (Effdi = electrical activity of…
Objective: to identify potential predisposing and modifying factors of MG in order to improve understanding of the mechanisms of disease, diagnostics and treatment.
Does mitochondrial dysfunction play an important role in the pathofysiology of patients with Complex Regional Pain Syndrome Type I ?
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 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: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…
1. What is the somatosensory profile of DM2 patients?2. What are the similarities and differences between the somatosensory profile of pain in myotonic dystrophy type 2 and fibromyalgia patients?