A5026499157- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Facial Nerve Paralysis Treatment and Research
- Pectus Deformity Diagnosis and Treatment
- Glycogen Storage Diseases and Myoclonus
- Hereditary Neurological Disorders
- RNA modifications and cancer
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Lipoproteins and Cardiovascular Health
- Lipid metabolism and disorders
- Liver Disease Diagnosis and Treatment
- Neurological diseases and metabolism
- Parathyroid Disorders and Treatments
- Congenital limb and hand anomalies
- Blood properties and coagulation
- Cardiovascular Syncope and Autonomic Disorders
- Muscle metabolism and nutrition
Radboud University Nijmegen
2014-2024
Radboud University Medical Center
2014-2024
Leiden University
1990-2019
European Neuro Muscular Centre
2019
Leiden University Medical Center
2003-2018
University Medical Center
2014-2018
Elisabeth-TweeSteden Ziekenhuis
2018
Medisch Centrum Leeuwarden
2018
University of Kansas Medical Center
2018
Amsterdam UMC Location VUmc
2005-2014
Abstract Most patients treated for single or multiple brain metastases die from progression of extracranial tumor activity. This makes it uncertain whether the combination neurosurgery and radiontherapy treatment metastasis will lead to better results than less invasive with radiotherapy alone. The effect neurosurgical excision plus was compared alone in a prospectively randomized trial 63 evaluable systemic cancer radiological diagnosis metastasis. Radiotherapy given whole by novel scheme 2...
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of in adults that foremost characterized by progressive wasting muscles the upper body. FSHD associated with contraction D4Z4 macrosatellite repeats on chromosome 4q35, but this pathogenic only certain "permissive" chromosomal backgrounds. Here, we show patients carry specific single-nucleotide polymorphisms region distal to last repeat. This FSHD-predisposing configuration creates canonical polyadenylation signal for transcripts...
Facloscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease associated with DNA rearrangements which are detectable using probe p13E-11 (D4F104S1) in digested EcoRI or other restriction enzymes. We have cloned rearranged fragment four unrelated FSHD patients. Restriction mapping sequence analysis showed that proximal distal parts fragment, flank region tandemly repeated 3.2 kb...
<h3>Objective:</h3> To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in Netherlands. <h3>Methods:</h3> Using 3-source capture-recapture methodology, we estimated total yearly number newly found symptomatic individuals with FSHD, including those not registered any 3 sources. this end, FSHD were available from large population-based registries Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010). Multiplication...
To investigate the variable clinical picture of Möbius syndrome (MIM no. 157900) and to further understand pathogenesis disorder.A standardized questionnaire was submitted 37 Dutch patients with syndrome. All underwent neurologic examination special attention cranial nerve functions, motor skills, facial limb anomalies.Of paresis, 97% had bilateral 3% unilateral ocular abduction weakness. Further analysis showed isolated abducens palsy in 9%, a conjugated horizontal gaze paresis 48%,...
Abstract Two unrelated patients with macrocephaly, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte‐Duclos disease). Both also autosomal dominant Cowden disease as evidenced by facial, oral, acral papules. In two families, 9 sibs demonstrated mucocutaneous lesions, thyroid disease, breast tumors, ovarian tumors compatible diagnosis disease. Some showed various degrees neurological such mental retardation, tremor, dysdiadochokinesia. Magnetic...
Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability. It caused by contractions of the D4Z4 repeat array on chromosome 4 to 1–10 units (FSHD1), or mutations in D4Z4-binding chromatin modifier SMCHD1 (FSHD2). Both situations lead partial opening structure transcription D4Z4-encoded polyadenylated DUX4 mRNA muscle. We measured CpG methylation control, FSHD1 FSHD2 individuals found...
Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, downstream mechanisms causing FSHD are not understood. The objective this study was to determine natural disease state and progression in muscles patients establish diagnostic biomarkers quantitative MRI fat infiltration phosphorylated metabolites. performed at 3T dedicated...
To investigate the effect of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT) on chronic fatigue in patients with facioscapulohumeral muscular dystrophy (FSHD).We performed a multicenter, assessor-blinded, randomized clinical trial (RCT). Fifty-seven FSHD type 1 severe were randomly allocated to AET, CBT, or usual care (UC). Outcomes assessed before treatment, following 16 weeks intervention, after 12-week follow-up. A linear mixed model for repeated measurements was...
<b><i>Background:</i></b> In animals and healthy volunteers β2-adrenergic agonists increase muscle strength mass, in particular when combined with training. patients facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of training on volume FSHD. <b><i>Methods:</i></b> Sixty-five were randomized to elbow flexors ankle dorsiflexors or non-training. After 26 weeks (sustained-release, 8 mg BID) was added a randomized, double-blind,...
We have performed retinal fluorescein angiography and audiometry in 32 familial 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate vasculopathy, consisting teleangiectasis microaneurysms, was present 18 37 evaluable angiograms (49%); 5 patients had minimal changes 14 (38%) were normal. High frequency hearing loss found 25 (64%) out 39 patients. Retinal absent families (6 examined), after correction for age sex, function normal 19 (7 examined). Age severity the...