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List of works by John Vissing

'Minimal symptom expression' in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

scientific article published on 18 March 2020

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

scientific article published on June 2013

A new glycogen storage disease caused by a dominant PYGM mutation

scientific article published on 09 May 2020

A nonischemic forearm exercise test for McArdle disease

scientific article

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

scientific article published on 19 June 2020

Aerobic Training in Patients with Congenital Myopathy

scientific article published on 11 January 2016

Aerobic conditioning: an effective therapy in McArdle's disease

scientific article

Aerobic training in patients with myotonic dystrophy type 1

scientific article (publication date: May 2005)

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

scientific article published on 30 June 2006

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

scientific article published on 22 August 2020

Axial myopathy: an overlooked feature of muscle diseases.

scientific article

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial

scientific article published on 22 January 2014

Body weight-supported training in Becker and limb girdle 2I muscular dystrophy

scientific article

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

scientific article

Cardiac manifestations of myotonic dystrophy type 1.

scientific article published on 13 September 2011

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

scientific article published on 10 April 2015

Clinical presentation and mutations in Danish patients with Wilson disease.

scientific article

Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

scientific article published on 21 April 2013

Cytokine genes as potential biomarkers for muscle weakness in OPMD.

scientific article published on 9 August 2016

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

scientific article published on 24 November 2020

Decreased variability of the 6-minute walk test by heart rate correction in patients with neuromuscular disease

scientific article

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

scientific article published on 28 October 2019

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

scientific article published on 4 April 2011

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

scientific article

Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis

scientific article

Effect of changes in fat availability on exercise capacity in McArdle disease.

scientific article published in June 2009

Endurance training improves fitness and strength in patients with Becker muscular dystrophy

scientific article

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

scientific article published on 25 June 2015

Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.

scientific article

Exercise in muscle glycogen storage diseases

scientific article

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

scientific article published on 28 April 2020

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

scientific article published in May 2005

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease)

scientific article published on 01 June 2015

Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

scientific article

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

scientific article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

MRI IN NEUROMUSCULAR DISEASES: AN EMERGING DIAGNOSTIC TOOL AND BIOMARKER FOR PROGNOSIS AND EFFICACY

scientific article published on 04 June 2020

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

Mechanisms of exertional fatigue in muscle glycogenoses

scientific article published on December 2012

Muscle atrophy reversed by growth factor activation of satellite cells in a mouse muscle atrophy model

scientific article

Muscle biopsies off-set normal cellular signaling in surrounding musculature

scientific article published on 30 September 2013

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

scientific article published on 17 July 2015

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study

scientific article published on August 2014

Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

scientific article (publication date: September 2013)

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

scientific article published on 01 September 2020

New patterns of inheritance in mitochondrial disease ⬇️

scientific article (publication date: October 2003)

No effect of triheptanoin on exercise performance in McArdle disease

scientific article published on 14 September 2019

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

scientific article

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

scientific article published on 28 October 2019

Paternal inheritance of mitochondrial DNA

scientific article (publication date: 22 August 2002)

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

scientific article published on March 2014

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

scientific article published in April 2008

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

scientific article published on 21 March 2017

Physical training for McArdle disease

scientific article

Physical training for McArdle disease

scientific article (published 2009-07-08)

Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: A 9-year follow-up study

scientific article published on 27 December 2014

Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I.

scientific article

Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study

scientific article published on 19 November 2014

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

scientific article published on 28 February 2014

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

scientific article

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

scientific article

Resistance training in patients with limb-girdle and becker muscular dystrophies.

scientific article

Responsiveness of outcome measures in myotonic dystrophy type 1

scientific article published on 16 July 2020

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

scientific article published on 02 January 2020

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phas

scientific article published on 17 December 2018

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

scientific article published on 14 February 2013

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

scientific article

Update on new muscle glycogenosis

scientific article

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

scientific article published on 12 March 2008

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