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The Effects of Transcutaneous Vagus Nerve Stimulation on the Pupil Diameter, Heart Rate and Heart Rate Variability in Epilepsy Patients and Healthy Subjects.

Primary objective: The main objective of this pilot study is to gain more insight into the effects of tVNS: to assess if the ABVN and consecutively the NTS are really stimulated by tVNS. Therefore this study investigates the effects of tVNS on the…

Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms

Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.

Haplotyping in patients with genetically proven Myotonic Dystrophy type 2

In this study we want to investigate the CD80/CD86 region whether polymorfism in the 3q21 region of the DM2 population are associated with a high prevalence of autoimmune diseases. If this is indeed the case, this will help our insight in the CD80/…

Old Title: International, multi-center, open label 9-month FOLLOW-UP extension study assessing the long term safety and tolerability of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A.;New title : International, multi-center, open label FOLLOW-UP extension study assessing the long term safety and tolerability of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A.

The primary objectives:Period 1:The primary objective is to assess the long-term (up to 2 years) safety and tolerability of two doses of PXT3003.Period 2:For patients continuing after V9, the main objective will be to offer patients the opportunity…

MR Imaging in Spinal Muscular Atrophy (SMA) as a biomarker for disease progression

To investigate the feasibility and usefulness of various MR techniques as a quantitative biomarker for SMA severity and disease progression. Two different MR protocols will be used. The first to investigate muscle tissue in the upper leg of both SMA…

''Dynamic exercise muscle metabolism in Spinal Muscular Atrophy type 3 assessed by 31-Phosphorus Magnetic Resonance Spectroscopy''

To study oxidative metabolism in arm muscles of children and adults with SMA type 3 by using 31-Phosphorus Magnetic Resonance Spectroscopy.

Follow-up study of amyloid detection in HCHWA-D patients, a monogenetic variant of cerebral amyloid angiopathy

The general aim of this study is to investigate if the early markers seen in presymptomatic patients predict progression of the disease. Furthermore, we can study if the disease markers we found in the mutation carriers predict disease severity.

Cortical inhibition and cortical plasticity in individuals with Neurofibromatosis type 1 using transcranial magnetic stimulation

The primary objectives is to determine the difference in cortical inhibition and cortical plasticity between NF1 patients and unaffected controls.

Applicability of an arm exoskeleton for persons with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

The primary objective of this study is to evaluate upper extremity and trunk function in persons with SMA in different stages of the disease using 3D movement analysis, muscle force measurements, surface electromyography and activity scales. The…