A5080605381- Multiple Sclerosis Research Studies
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Alcoholism and Thiamine Deficiency
- Ultrasound Imaging and Elastography
- Muscle Physiology and Disorders
- Parkinson's Disease Mechanisms and Treatments
- Systemic Lupus Erythematosus Research
- Neurological disorders and treatments
University of Liège
2019-2021
Centre Hospitalier Universitaire de Liège
2019
Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these result in major challenges trial design. Alternative strategies to large placebo-controlled trials that have been used other diseases (e.g., the use surrogate markers or historical controls) limitations Bayesian statistics may address. Here we present a model uses each patient's own natural history study data predict progression absence treatment. This prospective...
Abstract Despite robust postmortem evidence and potential clinical importance of gray matter (GM) pathology in multiple sclerosis (MS), assessing GM damage by conventional magnetic resonance imaging (MRI) remains challenging. This prospective cross‐sectional study aimed at characterizing the topography microstructural volumetric alteration MS using, addition to brain atrophy measures, three quantitative MRI (qMRI) parameters—magnetization transfer (MT) saturation, longitudinal (R1),...
Background: Deep brain stimulation (DBS) has shown some efficacy in monogenic Parkinson's disease; however, data about its long-term benefit SNCA mutations remain scarce. Case report: Subthalamic nucleus DBS was implanted a 60-year-old female patient with disease due to duplication. One year later, the walked unassisted and independent for most activities of daily living, without requiring any anti-Parkinson's medication. Discussion: To our knowledge, four cases bilateral subthalamic have...