John Vissing
A5004880821- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Lysosomal Storage Disorders Research
- Myasthenia Gravis and Thymoma
- Neurological disorders and treatments
- Diet and metabolism studies
- Muscle metabolism and nutrition
- Genetics and Neurodevelopmental Disorders
- Adipose Tissue and Metabolism
- Peripheral Neuropathies and Disorders
- Ion channel regulation and function
- Parkinson's Disease and Spinal Disorders
- Carbohydrate Chemistry and Synthesis
- ATP Synthase and ATPases Research
- Hereditary Neurological Disorders
- Inflammatory Myopathies and Dermatomyositis
- Parkinson's Disease Mechanisms and Treatments
- Biochemical and Molecular Research
- Metabolism, Diabetes, and Cancer
- Cardiovascular and exercise physiology
Rigshospitalet
2016-2025
Copenhagen University Hospital
2016-2025
University of Copenhagen
2016-2025
Oxford Centre for Computational Neuroscience
2024
University of Oxford
2024
Virginia Commonwealth University
2024
Glostrup Hospital
2006-2023
Newcastle upon Tyne Hospitals NHS Foundation Trust
2019-2023
Freeman Hospital
2023
Newcastle University
2006-2023
This report describes a 28-year-old man with lifelong exercise intolerance. Evaluation revealed mitochondrial myopathy due to novel 2-bp DNA deletion in the ND2 gene, which codes for subunit of enzyme complex I respiratory chain. Studies patient and his immediate family members that abnormal was paternal origin accounted 90 percent patient's muscle.
Eculizumab is effective and well tolerated in patients with antiacetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of open-label extension REGAIN, evaluating eculizumab's long-term safety efficacy.Eculizumab (1,200 mg every 2 weeks for 22.7 months [median]) was administered to 117 patients.The profile eculizumab consistent no cases meningococcal infection were reported during the period. Myasthenia...
Corona Virus Disease 2019 (COVID-19) is a new illness caused by novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Symptoms are variable but typically include fever, cough, symptoms, diarrhea, reduction of smell and taste sensation. Severity ranges from mild to the virus may lead pneumonia, distress death, in some patients. Nearly every country world has been affected this currently defined as pandemic, World Health Organization. There no known proven therapies...
Abstract Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present fatigue and multi-system disorders, are often lean, die prematurely, but the mechanistic basis for this clinical picture remains unclear. By integrating data from 17 cohorts of patients diseases ( n = 690) we find evidence that these disorders increase resting energy expenditure, a state termed hypermetabolism . We examine phenomenon longitudinally in patient-derived fibroblasts multiple donors....
Human mitochondrial DNA (mtDNA) is a 16.5-kb, circular genome essential for the maintenance of function and present in multiple copies most cell types. High sequence divergence maternal inheritance make mtDNA useful tracing human lineages. Whether recombination occurs
Energy metabolism in muscles relies predominantly on the breakdown of glycogen early exercise. In patients with McArdle's disease, blocked glycogenolysis results low exercise tolerance and can lead to muscle injury, particularly first minutes We hypothesized that ingesting sucrose before would increase availability glucose therefore improve disease.
Exercise intolerance is a prominent symptom in patients with mitochondrial myopathy (MM), but it still unsettled whether exercise training safe and beneficial for MM. To address this, we studied the effect of 12 weeks cycle on capacity, quality life underlying molecular cellular events five single large-scale deletions, one microdeletion 14 point mutations DNA (mtDNA), 13 healthy subjects. Each session lasted 30 min, was performed at an intensity 70% VO2max (maximal oxygen uptake). subject...
We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 the Faroe Islands due to founder effect, and carrier frequency 33. symptoms comprise hypotonia, muscle atrophy, hyperkinesia, severe hearing impairment postnatal growth retardation. Neuroimaging showed demyelination central cortical including atrophy basal ganglia, some fulfilled criteria for Leigh syndrome. Urine plasma acid were...
Background Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which dependent patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements progress replacement within individual groups....
Abstract Objective Susceptibility to exertional cramps and rhabdomyolysis in myophosphorylase deficiency (McArdle's disease [MD]) may lead patients shun exercise. However, physical inactivity worsen exercise intolerance by further reducing the limited oxidative capacity caused blocked glycogenolysis. We investigated whether aerobic conditioning can safely improve MD. Methods Eight MD (4 men 4 women; age range, 33–61 years) pedaled a cycle ergometer for 30 40 minutes day, days week, 14 weeks,...
Abstract Objectives The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the genotype–phenotype relation LGMD2I. Methods Prospective clinical molecular screening 118 Danish patients registered with LGMD was performed to divide into subtypes. Results One hundred three fulfilled criteria for LGMD2. Thirty‐eight had LGMD2I (27 homozygous, 11 compound heterozygous 826C>A), 23 sarcoglycanopathy, 2 dysferlinopathy, 12...
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, abnormally centralized nuclei. Autosomal dominant CNM due to mutations in the large GTPase dynamin 2 (DNM2), mechanochemical enzyme regulating cytoskeleton membrane trafficking cells. To date, 40 families CNM-related DNM2 have been described, here we report 60 additional encompassing broad genotypic phenotypic spectrum. In total, 18...
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans . We then undertook a detailed analysis the clinical, histopathological imaging features these patients. Results All had prenatal or early onset hypotonia contractures. None...
<h3>Objective</h3> To explore the clinical efficacy and safety of subcutaneous (SC) rozanolixizumab, an anti-neonatal Fc receptor humanized monoclonal antibody, in patients with generalized myasthenia gravis (gMG). <h3>Methods</h3> In this phase 2a, randomized, double-blind, placebo-controlled, 2-period, multicenter trial (NCT03052751), were randomized (1:1) period 1 (days 1–29) to 3 once-weekly (Q1W) SC infusions rozanolixizumab 7 mg/kg or placebo. 2 29–43), re-randomized either 4 (3 Q1W...
During the COVID-19 pandemic, patients with neuromuscular disorders, especially autoimmune myasthenia gravis, might be at greater risk of worse outcomes than otherwise healthy people because an immunocompromised state related to immunotherapy and possible respiratory bulbar muscular weakness. However, cessation in neuroinflammatory disorders has severe risks as well.1Korsukewitz C Reddel SW Bar-Or A Wiendl H Neurological era COVID-19—looking for consensus literature.Nat Rev Neurol. 2020; 16:...
See Cannon (doi: 10.1093/brain/awv400 ) for a scientific commentary on this article. Congenital myopathies are clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia weakness, specific pathological features biopsy. The phenotype ranges from foetal akinesia resulting in utero neonatal mortality, to milder that not life-limiting. Over the past decade, more than 20 new myopathy genes have been identified. Most encode proteins...