23 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…
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…
Identify and further explore the structural brain alterations in ALS patients in comparison to healthy controls and to investigate the correlations of anatomical changes with clinical variables.
To obtain more information on peripheral muscle properties that can account for the reduced exercise capacity in patients with PPS compared to healthy subjects, and to develop an alternative method for determining aerobic exercise capacity in…
The two objectives of our proposal are: (i) to identify specific gene expression profiles in blood and fibroblasts from patients with ALS or ALS-mimic in order to improve diagnosis and measure disease progression; (ii) the identification of genetic…
The key objective of the study is to assess the validity of a quantitative uniform examination technique for estimating physiological properties in MND patients, to better examine the neuromuscular properties from which defective motor behavior…
1) To study the effects of antibody removal by immunoadsorption on the immune phenotype over time in patients with B-cell related autoimmune diseases such as MG, AAV, anti-GBM disease, cryoglobulinemic vasculitis and other refractory antibody-…
Our objectives are to simultaneously record high-density EEG and EMG, and to use source analysis to assess the activity and communication in motor and non-motor (underlying cognition) neural networks during rest and during cognitive and motor tasks…
Primary Objective: To study alterations in metabolic balance in ALS patients and their impact on disease progression and survival.Secondary Objective(s): 1. To evaluate and compare the metabolic balance in patients with ALS and neurological control…
1) To validate structural and functional changes (previous found in ALS patients) in other motor neuron disease and ALS mimicking syndromes and healthy control subjects 2) Explore brain alterations of asymptomatic family members in case of ALS, to…