J. Vissing

J. Vissing, N. Diemer, N H Diemer, 1996, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Role of metabolic feedback regulation in glucose production of running rats.

J. Vissing, H. Galbo, B. Sonne, 1988, American Journal of Physiology.

Ventromedial hypothalamic regulation of hormonal and metabolic responses to exercise.

J. Vissing, H. Galbo, A. Scheurink, 1989, The American journal of physiology.

MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy

J. Vissing, O. D. Leinhard, J. Dahlqvist, 2020, Annals of neurology.

OxPhos Dysfunction Causes Hypermetabolism and Reduces Lifespan in Cells and in Patients with Mitochondrial Diseases

Anna S. Monzel, M. Levine, S. Horvath, 2022, bioRxiv.

Aerobic training in persons who have recovered from juvenile dermatomyositis

J. Vissing, P. Mathiesen, M. Ørngreen, 2013, Neuromuscular Disorders.

Preserved Capacity for Adaptations in Strength and Muscle Regulatory Factors in Elderly in Response to Resistance Exercise Training and Deconditioning

J. Vissing, T. Jeppesen, A. Fritzen, 2020, Journal of clinical medicine.

Muscle contractility of leg muscles in patients with mitochondrial myopathies.

J. Vissing, J. Dahlqvist, G. Hedermann, 2019, Mitochondrion.

Axial muscle involvement in patients with limb girdle muscular dystrophy type R9

J. Vissing, N. Witting, J. Dahlqvist, 2022, Muscle & nerve.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

J. Finsterer, A. Ludolph, D. Pareyson, 2016, Journal of Molecular Neuroscience.

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

M. Schwartz, J. Vissing, J. Hertz, 2005, Neurology.

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

R. Haller, J. Vissing, T. Taivassalo, 2009, Archives of neurology.

Diabetes in Myotonic Dystrophy

J. Vissing, J. Dahlqvist, 2017 .

Endocrine function over time in patients with myotonic dystrophy type 1

J. Vissing, N. Witting, J. Dahlqvist, 2015, European journal of neurology.

Muscle contractility in spinobulbar muscular atrophy

J. Vissing, C. Thomsen, J. Dahlqvist, 2019, Scientific Reports.

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

J. Vissing, G. van Hall, A. Lund, 2020, JIMD reports.

Antimyostatin Treatment in Health and Disease: The Story of Great Expectations and Limited Success

J. Vissing, T. Krag, T. Nielsen, 2021, Cells.

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

J. Vockley, F. Scaglia, M. Falk, 2020, Neurology.

Role of 5′AMP‐activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease

B. Kemp, R. Haller, J. Vissing, 2002, The Journal of physiology.

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

J. Vissing, B. Kiens, M. Duno, 2019, Cells.

Københavns Universitet Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle

J. Vissing, B. Kiens, M. Duno, 2019 .

251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

E. Malfatti, P. Laforêt, J. Vissing, 2021, Neuromuscular Disorders.

Effect of Aerobic Exercise Training and Deconditioning on Oxidative Capacity and Muscle Mitochondrial Enzyme Machinery in Young and Elderly Individuals

J. Vissing, T. Jeppesen, M. Ørngreen, 2020, Journal of clinical medicine.

Tissue specific distribution of the 3243A→G mtDNA mutation

K. Kyvik, M. Schwartz, A. Frederiksen, 2006, Journal of Medical Genetics.

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

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

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 phase 1, open-label, multicenter, multinational, ascend

B. Byrne, A. Pestronk, P. van Damme, 2019, Neuromuscular Disorders.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

M. Roberts, C. Angelini, R. Lachmann, 2017, European journal of neurology.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

M. Cossée, F. Leturcq, T. Stojkovic, 2016, Neurology: Genetics.

No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study

J. Vissing, N. Voermans, G. van Hall, 2022, Journal of inherited metabolic disease.

Treatment Opportunities in Patients With Metabolic Myopathies

J. Vissing, M. Ørngreen, 2017, Current Treatment Options in Neurology.

Bezafibrate in skeletal muscle fatty acid oxidation disorders

P. Laforêt, G. Andersen, J. Vissing, 2014, Neurology.

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy.

J. Vissing, M. Duno, F. Wibrand, 2019, The Journal of clinical endocrinology and metabolism.

Syddansk Universitet Mitochondrial point mutation m . 3243 A > G associates with lower bone mineral density , thinner cortices and reduced bone strength A case-control study

M. Frost, A. Frederiksen, J. Vissing, 2017 .

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study

M. Frost, A. Frederiksen, J. Vissing, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Blocked muscle fat oxidation during exercise in neutral lipid storage disease.

P. Laforêt, G. Andersen, J. Vissing, 2012, Archives of neurology.

Regulation of hepatic glucose production in running rats studied by glucose infusion.

J. Vissing, H. Galbo, B. Sonne, 1988, Journal of applied physiology.

Effects of glucose infusion on hormone secretion and hepatic glucose production during heavy exercise.

J. Vissing, H. Galbo, A. Steffens, 1993, The American journal of physiology.

162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands

P. Laforêt, J. Vissing, C. Vianey‐Saban, 2010, Neuromuscular Disorders.

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

A. Santalla, G. Nogales-Gadea, J. Arenas, 2021, Genes.

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

J. Vissing, A. Lund, K. Madsen, 2018, The Journal of clinical endocrinology and metabolism.

Congenital myopathies are mainly associated with a mild cardiac phenotype

L. Køber, H. Bundgaard, P. Laforêt, 2019, Journal of Neurology.

Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

L. Køber, H. Bundgaard, D. Milea, 2014, Acta neurologica Scandinavica.

Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!".

L. Køber, H. Bundgaard, J. Vissing, 2013, International Journal of Cardiology.

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

I. Richard, J. Vissing, M. Duno, 2020, Human mutation.

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

E. Pegoraro, F. Leturcq, P. Laforêt, 2015, Neurology.

BAG3 myopathy is not always associated with cardiomyopathy

J. Vissing, M. Duno, V. Straub, 2018, Neuromuscular Disorders.

Reduced levels of skeletal muscle Na+K+-ATPase in McArdle disease

R. Haller, J. Vissing, T. Clausen, 1998, Neurology.

Lactate metabolism during exercise in patients with mitochondrial myopathy

J. Vissing, T. Jeppesen, G. Hall, 2013, Neuromuscular Disorders.

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations

M. Schwartz, J. Vissing, M. Duno, 2005, Annals of neurology.

Fuel utilization in patients with very long‐chain acyl‐coa dehydrogenase deficiency

B. V. van Engelen, J. Vissing, M. Sacchetti, 2004, Annals of neurology.

Zilucoplan: An Investigational Complement C5 Inhibitor for the Treatment of Acetylcholine Receptor Autoantibody–Positive Generalized Myasthenia Gravis

H. Wiendl, N. Gilhus, J. Vissing, 2021, Expert opinion on investigational drugs.

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

A. Bayat, J. Vissing, M. Duno, 2022, American journal of medical genetics. Part A.

Myopathy can be a key phenotype of membrin (GOSR2) deficiency

J. Vissing, M. Duno, T. Krag, 2021, Human mutation.

Differential effects from parapyramidal region and rostral ventrolateral medulla mediated by substance P

G. Iwamoto, J. Vissing, G. Kozlowski, 1999 .

Effect of deficient muscular glycogenolysis on extramuscular fuel production in exercise.

R. Haller, J. Vissing, H. Galbo, 1992, Journal of applied physiology.

Muscle reflex and central motor control of neuroendocrine activity, glucose homeostasis and circulation during exercise.

J. Vissing, 2000, Acta physiologica Scandinavica. Supplementum.

Effect of anaesthetizing the region of the paraventricular hypothalamic nuclei on energy metabolism during exercise in the rat.

G. van Dijk, J. Vissing, H. Galbo, 1994, Acta physiologica Scandinavica.

Mobilization of glucoregulatory hormones and glucose by hypothalamic locomotor centers.

J. Mitchell, G. Iwamoto, J. Vissing, 1989, The American journal of physiology.

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

Z. Tümer, J. Vissing, M. Duno, 2022, Genes.

Physical activity in myotonic dystrophy type 1

J. Vissing, N. Witting, K. Knak, 2020, Journal of Neurology.

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

E. Bertini, A. D’Amico, E. Ricci, 2015, Neuromuscular Disorders.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

B. Byrne, P. van Damme, R. Barohn, 2022, Neurology.

LGMD2L with bone affection: Overlapping phenotype of dominant and recessive ANO5‐induced disease

J. Vissing, N. Witting, M. Duno, 2012, Muscle & nerve.

Multiple mtDNA deletions with features of MNGIE

R. Wevers, J. Vissing, M. Duno, 2002, Neurology.

Polymyositis following autologous haematopoietic stem cell transplantation

J. Vissing, H. Marquart, G. Hedermann, 2016, Scandinavian journal of rheumatology.

211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands

P. Laforêt, J. Vissing, B. Schoser, 2017, Neuromuscular Disorders.

Effect of oral sucrose shortly before exercise on work capacity in McArdle disease.

R. Haller, J. Vissing, S. T. Andersen, 2008, Archives of neurology.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

S. Dimauro, H. J. Schelhaas, R. Wevers, 2008, Neurology.

No spontaneous second wind in muscle phosphofructokinase deficiency

R. Haller, J. Vissing, 2004, Neurology.

Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency

J. Vissing, M. Ørngreen, R. Ejstrup, 2003, Neurology.

Aerobic conditioning: An effective therapy in McArdle's disease

R. Haller, J. Vissing, T. Taivassalo, 2006, Annals of neurology.

Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms.

R. Haller, J. Vissing, 2002, Archives of neurology.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III

P. Laforêt, J. Vissing, H. Galbo, 2015, Neurology.

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era

A. Mayhew, L. Servais, J. Vissing, 2021, Journal of neuromuscular diseases.

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

R. Haller, J. Vissing, G. van Hall, 2015, The Journal of clinical endocrinology and metabolism.

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

M. Schwartz, J. Vissing, M. Duno, 2008, European Journal of Human Genetics.

Aerobic training in myotonia congenita: Effect on myotonia and fitness

G. Andersen, J. Vissing, N. Løkken, 2017, Muscle & nerve.

Reflex control of glucoregulatory exercise responses by group III and IV muscle afferents.

J. Mitchell, G. Iwamoto, J. Vissing, 1994, The American journal of physiology.

High-intensity training in patients with spinal and bulbar muscular atrophy

G. Andersen, K. Heje, A. Buch, 2019, Journal of Neurology.

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

N. Romero, C. Birck, A. Echaniz-Laguna, 2020, Annals of neurology.

Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

K. Claeys, J. Hogrel, P. Laforêt, 2009, The New England journal of medicine.

The 2- and 6-Minute Walk Tests in Neuromuscular Diseases: Effect of HeartRate Correction on the Learning Effect

J. Vissing, N. Witting, K. Knak, 2017 .

Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy

J. Vissing, N. Witting, C. Kruuse, 2014, Annals of neurology.

Prolonged fasting‐induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II

J. Vissing, G. van Hall, A. Born, 2021, Acta paediatrica.

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

M. Schwartz, R. Haller, J. Vissing, 2009, Brain : a journal of neurology.

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers

M. Frost, A. Frederiksen, J. Vissing, 2019, Endocrine connections.

Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice

J. Vissing, T. Pinós, T. Krag, 2022, Biomedicines.

Eculizumab improves fatigue in refractory generalized myasthenia gravis

K. Patra, P. van Damme, M. Benatar, 2019, Quality of Life Research.

Cardiac Outcomes in Adults With Mitochondrial Diseases.

P. De Groote, V. Procaccio, A. Echaniz-Laguna, 2022, Journal of the American College of Cardiology.

Open-Label Trial of Anti-TNF-α in Dermato- and Polymyositis Treated Concomitantly with Methotrexate

B. V. van Engelen, J. Vissing, C. Denton, 2008, European Neurology.

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

F. Muntoni, L. Santoro, J. Vissing, 2022, Brain communications.

No effect of triheptanoin in patients with phosphofructokinase deficiency

P. Laforêt, J. Vissing, G. van Hall, 2022, Neuromuscular Disorders.

Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency

P. Laforêt, A. Buch, J. Vissing, 2019, JIMD reports.

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021

Ewout J. N. Groen, S. Corti, M. Bowerman, 2022, Neuromuscular Disorders.

Lactate production and clearance in exercise. Effects of training. A mini‐review

J. Vissing, H. Galbo, B. Stallknecht, 1998, Scandinavian journal of medicine & science in sports.

Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis

J. Vissing, B. Quistorff, U. Gansted, 2001, Annals of neurology.

Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic

H. Wiendl, J. Vissing, R. Mantegazza, 2020, Journal of the Neurological Sciences.

Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis

M. Benatar, R. Barohn, J. Kissel, 2019, Muscle & nerve.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

G. L. Masson, W. Löscher, P. Vermersch, 2017, The Lancet. Neurology.

Effect of liver glycogen content on glucose production in running rats.

J. Vissing, H. Galbo, J. Wallace, 1989, Journal of applied physiology.

Screening for late‐onset Pompe disease in western Denmark

J. Vissing, H. Andersen, F. Bach, 2018, Acta neurologica Scandinavica.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

J. Vissing, M. Duno, Z. Lukacs, 2013, Molecular genetics and metabolism.

Disorders of Muscle Glycogen Metabolism

J. Vissing, 2013 .

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

J. Vissing, Z. Lukacs, V. Straub, 2013, JAMA neurology.

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

J. Vissing, N. Witting, M. Duno, 2013, Neuromuscular Disorders.

Fatty Acid Mitochondrial Disorders

H. Reichmann, A. Federico, C. Angelini, 2010 .

Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy

E. Rostrup, J. Vissing, N. Witting, 2016, Neurotherapeutics.

Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy

J. Vissing, U. Feldt-Rasmussen, K. P. Prahm, 2017, Neuromuscular Disorders.

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

A. Buch, J. Vissing, M. Duno, 2017, BMC Musculoskeletal Disorders.

Exercise fuel mobilization in mitochondrial myopathy: A metabolic dilemma

R. Haller, J. Vissing, H. Galbo, 1996, Annals of neurology.

Influence of erythrocyte oxygenation and intravascular ATP on resting and exercising skeletal muscle blood flow in humans with mitochondrial myopathy.

J. Vissing, J. González-Alonso, T. Jeppesen, 2012, Mitochondrion.

High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.

K. Kyvik, M. Schwartz, A. Frederiksen, 2009, The Journal of clinical endocrinology and metabolism.

High prevalence of impaired glucose homeostasis and myopathy in a- and oligosymptomatic 3243A>G mtDNA mutation-positive subjects

K. Kyvik, M. Schwartz, A. Frederiksen, 2009 .

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

M. Schwartz, J. Vissing, M. Duno, 2006, Brain : a journal of neurology.

Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I

J. Vissing, T. Krag, S. Hauerslev, 2012, Neuromuscular Disorders.

Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

J. Vissing, J. Hertz, M. Ørngreen, 2013, Acta neurologica Scandinavica.

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

K. Claeys, C. Wallgren‐Pettersson, H. Granzier, 2022, Acta neuropathologica communications.

265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

N. Alfen, H. Kan, A. Pichiecchio, 2022, Neuromuscular Disorders.

Paternal inheritance of mitochondrial DNA.

M. Schwartz, J. Vissing, 2002, The New England journal of medicine.

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

M. Schwartz, A. Frederiksen, J. Vissing, 2010, Muscle & nerve.

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

L. Køber, H. Bundgaard, J. Vissing, 2014, Journal of Cardiovascular Magnetic Resonance.

Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose

J. Vissing, D. Olsen, M. Ørngreen, 2002, Neurology.

Differential effects from parapyramidal region and rostral ventrolateral medulla mediated by substance P.

G. Iwamoto, J. Vissing, G. Kozlowski, 1999, American journal of physiology. Regulatory, integrative and comparative physiology.

EFNS review on the role of muscle biopsy in the investigation of myalgia

J. Burgunder, C. Angelini, G. Siciliano, 2013, European journal of neurology.

Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study

A. Mayhew, K. Bushby, J. Thornton, 2014, PloS one.

Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA

J. Vissing, C. Thomsen, J. Dahlqvist, 2018, Neuromuscular Disorders.

The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients.

S. Dimauro, R. Haller, J. Vissing, 2003, Brain : a journal of neurology.

Disorders of Voluntary Muscle: Metabolic myopathies: Defects of carbohydrate and lipid metabolism

J. Vissing, F. Taroni, S. Donato, 2010 .

Limb girdle muscular dystrophy due to mutations in POMT2

D. MacArthur, M. Lek, K. Claeys, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

L. Køber, H. Bundgaard, J. Vissing, 2015, International journal of cardiology.

233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017

R. Carlier, I. Richard, J. Hogrel, 2018, Neuromuscular Disorders.

MRI in sarcoglycanopathies: a large international cohort study

E. Bertini, E. Mercuri, F. Muntoni, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

L. Køber, H. Bundgaard, J. Vissing, 2013, Journal of Neurology.

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

J. Vissing, M. Duno, J. Dahlqvist, 2021, Frontiers in Neurology.

Prevalence and phenotypes of congenital myopathy due to α‐actin 1 gene mutations

J. Vissing, U. Werlauff, N. Witting, 2016, Muscle & nerve.

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

J. Vissing, U. Werlauff, N. Witting, 2017, Neurology: Genetics.

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

J. Vissing, U. Werlauff, H. Petri, 2015, Journal of neuromuscular diseases.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

J. Vissing, U. Werlauff, H. Petri, 2014, Neuromuscular Disorders.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity

M. Kjær, S. Bruzzone, J. Jensen, 2021, Molecular metabolism.

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

M. Schwartz, J. Vissing, M. Duno, 2004, European Journal of Human Genetics.

Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

H. Schmalbruch, J. Vissing, D. Olsen, 2000, European journal of neurology.

Risk of cancer in relatives of patients with myotonic dystrophy: a population‐based cohort study

H. Eiberg, B. Feenstra, M. Melbye, 2014, European journal of neurology.

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

R. Christensen, U. Jensen, K. Thorsen, 2019, European journal of medical genetics.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

Mitochondrial dysfunction and risk of cancer

M. Melbye, J. Vissing, J. Wohlfahrt, 2015, British Journal of Cancer.

New patterns of inheritance in mitochondrial disease.

M. Schwartz, J. Vissing, John Vissing, 2003, Biochemical and biophysical research communications.

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Anna S. Monzel, M. Levine, Saeed Tavazoie, 2023, Communications Biology.

31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy

J. Vissing, F. Wibrand, B. Quistorff, 2007, Journal of Neurology.

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.

M. Schwartz, J. Vissing, E. Christensen, 2007, Archives of neurology.

Fat metabolism during exercise in patients with mitochondrial disease.

R. Haller, J. Vissing, G. van Hall, 2009, Archives of neurology.

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

A. Lucia, G. Nogales-Gadea, J. Arenas, 2020, International journal of molecular sciences.

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

T. Rosenberg, M. Schwartz, J. Vissing, 2001, Annals of neurology.

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

J. Vissing, M. Duno, P. Sarathchandra, 2019, Annals of neurology.

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

G. Andersen, J. Vissing, M. Duno, 2017, Clinical case reports.

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy

J. Jakobsen, J. Vissing, M. Duno, 2014, Neuromuscular Disorders.

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

C. Broeckhoven, M. Schwartz, J. Vissing, 2003, European Journal of Human Genetics.

[Paternal inheritance of mitochondrial DNA].

M. Schwartz, J. Vissing, 2003, Ugeskrift for laeger.

The antimyotonic effect of lamotrigine in non‐dystrophic myotonias: a double‐blind randomized study

G. Andersen, J. Vissing, N. Witting, 2017, Brain : a journal of neurology.

Limitations of muscle biopsy in Pompe disease

J. Vissing, 2013, BMC Musculoskeletal Disorders.

COVID-19-associated risks and effects in myasthenia gravis (CARE-MG)

H. Wiendl, M. Maas, J. Vissing, 2020, The Lancet Neurology.

Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis

M. Aadahl, J. Vissing, L. Andersen, 2021, Neuromuscular Disorders.

Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations

C. Angelini, E. Pegoraro, J. Vissing, 2011, Muscle & nerve.

Do carriers of PYGM mutations have symptoms of McArdle disease?

M. Schwartz, J. Vissing, M. Duno, 2006, Neurology.

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

J. Mogensen, J. Vissing, J. Hertz, 2017, Journal of the Neurological Sciences.

Aerobic training in patients with myotonic dystrophy type 1

J. Vissing, D. Olsen, M. Ørngreen, 2005, Annals of neurology.

MYO-MRI diagnostic protocols in genetic myopathies

E. Mercuri, F. Muntoni, T. Yousry, 2019, Neuromuscular Disorders.

Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2 I : A Multinational Cross-Sectional Study

A. Mayhew, K. Bushby, J. Thornton, 2014 .

Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study

Jasper M. Morrow, John S. Thornton, Hanns Lochmüller, 2013, PloS one.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies

F. Muntoni, K. Mathews, G. Meola, 2019, Human mutation.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

E. Hardeman, H. Granzier, E. Zanoteli, 2019, bioRxiv.

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

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Recombination of Human Mitochondrial DNA

Konstantin Khrapko, K. Khrapko, M. Schwartz, 2004, Science.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

D. MacArthur, M. Lek, K. Claeys, 2018, Skeletal Muscle.

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

J. Vissing, G. Tasca, I. Illa, 2020, Neurology.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

J. Finsterer, A. Ludolph, D. Pareyson, 2016, Journal of Molecular Neuroscience.

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

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

F. Rivier, C. Béroud, E. Malfatti, 2021, Journal of Neurology.

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

J. Vissing, U. Werlauff, N. Witting, 2018, Muscle & nerve.

Home‐based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy

D. Vissière, L. Servais, J. Vissing, 2022 .

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy

G. Andersen, J. Vissing, C. Thomsen, 2019, Journal of Neurology.

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency*

E. Shoubridge, H. Antonicka, R. Haller, 2003, Journal of Biological Chemistry.

Characterization of two new dominant ClC‐1 channel mutations associated with myotonia

M. Schwartz, J. Vissing, M. Duno, 2003, Muscle & nerve.

Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

J. Vissing, M. Duno, M. Stemmerik, 2023, Scientific Reports.

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

Permanent muscle weakness in hypokalemic periodic paralysis

J. Vissing, N. Witting, M. Duno, 2020, Neurology.

Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

J. Vissing, J. Dahlqvist, K. Revsbech, 2020, Journal of Neurology.

Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults

J. Vissing, C. Thomsen, J. Dahlqvist, 2017, Medicine and science in sports and exercise.

muscular dystrophy Severe paraspinal muscle involvement in facioscapulohumeral

J. Vissing, C. Thomsen, J. Dahlqvist, 2022 .

Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

J. Vissing, H. Marquart, K. Müller, 2010, Neuromuscular Disorders.

Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

E. Ricci, B. V. van Engelen, J. Vissing, 2020, European journal of neurology.

Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing

D. Milea, J. Vissing, N. Witting, 2014, Acta ophthalmologica.

Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis

J. Vissing, N. Witting, S. Prytz, 2022, Journal of Neurology.

MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients

G. Andersen, K. Heje, J. Vissing, 2017, Journal of Neurology.

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

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

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

M. Schwartz, J. Vissing, T. Jeppesen, 2008, Neuromuscular Disorders.

Autosomal dominant monosymptomatic myotonia permanens

J. Vissing, M. Duno, E. Colding-Jørgensen, 2006, Neurology.

Decrement of compound muscle action potential is related to mutation type in myotonia congenita

M. Schwartz, J. Vissing, E. Colding-Jørgensen, 2003, Muscle & nerve.

Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

J. Vissing, A. Riisager, T. Pinós, 2020, Frontiers in Neurology.

Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

P. van Damme, M. Benatar, F. Piehl, 2019, Journal of the Neurological Sciences.

Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency.

R. Haller, J. Vissing, B. Quistorff, 2005, Archives of neurology.

Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?

J. Vissing, N. Witting, T. Krag, 2021, Acta neuropathologica communications.

β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

J. Vissing, M. Duno, F. Wibrand, 2022, JIMD reports.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis

D. Papanicolaou, V. S. Williams, L. Tankó, 2020, Neurology.

A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans

J. Vissing, T. Krag, 2015, Journal of neuropathology and experimental neurology.

A pilot study of muscle plasma protein changes after exercise

J. Vissing, T. Lauridsen, J. Dahlqvist, 2014, Muscle & nerve.

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

J. Vissing, T. Krag, S. Hauerslev, 2011, Skeletal Muscle.

No muscle involvement in myoclonus‐dystonia caused by ɛ‐sarcoglycan gene mutations

F. Asmus, H. Lochmüller, J. Vissing, 2008, European journal of neurology.

Deletion of exon 16 of the dystrophin gene is not associated with disease

M. Schwartz, J. Vissing, M. Duno, 2007, Human mutation.

Exercise therapy for muscle and lower motor neuron diseases

J. Vissing, A. Sheikh, 2019, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis.

J. Vissing, N. Witting, M. Duno, 2020, Journal of neuropathology and experimental neurology.

Growth and Differentiation Factor 15 as a biomarker for mitochondrial myopathy.

A. Buch, J. Vissing, K. Madsen, 2019, Mitochondrion.

McArdle disease: a clinical review

M. Rose, C. Bruno, J. Vissing, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis

M. Benatar, J. Vissing, V. Bril, 2020, Neurology.

Exercise intolerance and myoglobinuria

J. Vissing, 2016 .

Fat oxidation is impaired during exercise in lipin-1 deficiency

J. Vissing, V. Straub, K. Madsen, 2019, Neurology.

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

J. Statland, M. Pasnoor, J. Verschuuren, 2021, The Lancet Neurology.

Expanding the phenotype of filamin-C-related myofibrillar myopathy

J. Vissing, T. Krag, A. Eisum, 2019, Clinical Neurology and Neurosurgery.

Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy

J. Vissing, D. Olsen, T. Dysgaard Jeppesen, 2003, Journal of Neurology.

Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

J. Vissing, N. Witting, K. Rudolf, 2021, European journal of neurology.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints

A. Mayhew, T. Yousry, J. Thornton, 2019, Annals of clinical and translational neurology.

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

H. Eiberg, H. Bundgaard, M. Melbye, 2014, European heart journal.

Muscle contractility in spinobulbar muscular atrophy

J. Vissing, C. Thomsen, J. Dahlqvist, 2019, Scientific Reports.

The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease

B. Saltin, R. Haller, J. Vissing, 2001, The Journal of physiology.

Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies.

B. Saltin, R. Haller, J. Vissing, 1998, The Journal of clinical investigation.

Resistance training in patients with limb‐girdle and becker muscular dystrophies

J. Vissing, L. Ingelsrud, T. Krag, 2013, Muscle & nerve.

Physical training for McArdle disease.

J. Vissing, R. Quinlivan, D. Hilton‐Jones, 2011, The Cochrane database of systematic reviews.

Short‐ and long‐term effects of endurance training in patients with mitochondrial myopathy

J. Vissing, M. Duno, F. Wibrand, 2009, European journal of neurology.

Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)

C. Crone, G. Andersen, J. Vissing, 2009, Neurology.

Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

A. Buch, J. Vissing, K. Madsen, 2021, JIMD reports.

Skeletal muscle metabolism during prolonged exercise in Pompe disease

P. Laforêt, J. Vissing, H. Galbo, 2017, Endocrine connections.

Fat metabolism during exercise in patients with McArdle disease

R. Haller, J. Vissing, G. van Hall, 2009, Neurology.

A diagnostic cycle test for McArdle's disease

R. Haller, J. Vissing, 2003, Annals of neurology.

Aerobic training in patients with anoctamin 5 myopathy and hyperckemia

J. Vissing, C. Vissing, N. Preisler, 2014, Muscle & nerve.

Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy

G. Andersen, J. Vissing, J. Dahlqvist, 2015, Neurology.

Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire.

J. Vissing, Linda Kahr Andersen, 2021, Journal of neuromuscular diseases.

Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

J. Vissing, J. Dahlqvist, 2016, Journal of Molecular Neuroscience.

No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial

J. Vissing, M. Ørngreen, T. Krag, 2021, Journal of inherited metabolic disease.

Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations

J. Vissing, K. Madsen, T. Jeppesen, 2021, Journal of clinical medicine.

The Pathophysiology of Exercise and Effect of Training in Mitochondrial Myopathies

J. Vissing, T. Jeppesen, 2019, Diagnosis and Management of Mitochondrial Disorders.

Decreased Variability of the 6-Minute Walk Test by Heart Rate Correction in Patients with Neuromuscular Disease

J. Vissing, N. Witting, John Vissing, 2014, PloS one.

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

H. Bundgaard, J. Vissing, M. Duno, 2021, Frontiers in Neurology.

Aerobic fitness after JDM--a long-term follow-up study.

L. Andersen, J. Vissing, P. Mathiesen, 2013, Rheumatology.

Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy

J. Vissing, E. Danielsen, C. Thomsen, 2020, Neurology.

Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults

D. Papanicolaou, Liang‐Kung Chen, J. Praestgaard, 2020, JAMA network open.

Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I

J. Vissing, C. Thomsen, G. Hedermann, 2016, Annals of neurology.

Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model

J. Vissing, T. Krag, S. Hauerslev, 2014, PloS one.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Absence of p.R50X Pygm read-through in McArdle disease cellular models

A. Lucia, J. Arenas, Miguel Ángel Martín, 2019, Disease Models & Mechanisms.

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

J. Vissing, T. Pinós, A. Brull, 2018, Molecular genetics and metabolism.

Resistance training and aerobic training improve muscle strength and aerobic capacity in chronic inflammatory demyelinating polyneuropathy

S. Sindrup, K. Heje, J. Vissing, 2018, Muscle & nerve.

Training improves oxidative capacity, but not function, in spinal muscular atrophy type III

J. Vissing, N. Preisler, R. Hansen, 2015, Muscle & nerve.

Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study

J. Vissing, R. Quinlivan, M. Ørngreen, 2020, Journal of inherited metabolic disease.

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

A. Echaniz-Laguna, P. Laforêt, T. Stojkovic, 2013, The Journal of clinical endocrinology and metabolism.

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

H. Eiberg, P. Bross, J. Vissing, 2009, Journal of the Neurological Sciences.

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

E. Shoubridge, Woranontee Weraarpachai, J. Vissing, 2015, Journal of Medical Genetics.

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

F. Daldal, A. Martinuzzi, J. Vissing, 2013, Human molecular genetics.

No effect of triheptanoin on exercise performance in McArdle disease

P. Laforêt, R. Haller, A. Buch, 2019, Annals of clinical and translational neurology.

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

J. Vissing, M. Duno, E. Christensen, 2013, Neurology.

Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort

M. Frost, M. Larsen, A. Frederiksen, 2018, Clinical genetics.

Treating MNGIE

P. Chinnery, J. Vissing, 2006, Neurology.

Impaired fat oxidation during exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency patients and effect of IV-glucose.

A. Buch, J. Vissing, A. Lund, 2019, The Journal of clinical endocrinology and metabolism.

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

J. Vissing, M. Duno, F. Wibrand, 2015, JIMD reports.

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

M. Schwartz, A. Frederiksen, J. Vissing, 2006, Archives of neurology.

Impaired energy metabolism and abnormal muscle histology in mut– methylmalonic aciduria

J. Vissing, F. Wibrand, M. Ørngreen, 2005, Neurology.

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.

J. Vissing, M. Duno, F. Wibrand, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations

M. Schwartz, J. Vissing, 2004, Journal of the Neurological Sciences.

Responsiveness of outcome measures in myotonic dystrophy type 1

J. Vissing, N. Witting, K. Knak, 2020, Annals of Clinical and Translational Neurology.

Drilling for energy in mitochondrial disease.

R. Haller, J. Vissing, 2009, Archives of neurology.

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

P. Laforêt, J. Vissing, M. Ørngreen, 2015, Journal of Inherited Metabolic Disease.

Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA.

J. Vissing, J. Dahlqvist, G. Hedermann, 2017, Mitochondrion.

Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy

M. Schwartz, J. Vissing, D. Olsen, 2003, Annals of neurology.

Decreased insulin action in skeletal muscle from patients with McArdle's disease.

R. Haller, J. Vissing, J. Wojtaszewski, 2002, American journal of physiology. Endocrinology and metabolism.

Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency

J. Vissing, V. Straub, B. Krett, 2020, European journal of neurology.

Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA

J. Olesen, A. Frederiksen, J. Vissing, 2016, European journal of neurology.

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

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

B. Engelen, J. Vissing, N. Voermans, 2017, Neuromuscular Disorders.

Correlation between myasthenia gravis−activities of daily living (MG‐ADL) and quantitative myasthenia gravis (QMG) assessments of anti−acetylcholine receptor antibody−positive refractory generalized myasthenia gravis in the phase 3 regain study

J. Vissing, J. Howard, F. O'Brien, 2018, Muscle & nerve.

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

P. van Damme, M. Benatar, F. Piehl, 2020, Journal of Neurology.

Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Denny J. Padgett, Adam L. Comer, Yi-Chung Lee, 2023, The Lancet Neurology.

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

J. Vissing, H. Andersen, G. Citirak, 2016, PloS one.

A nonischemic forearm exercise test for McArdle disease

R. Haller, J. Vissing, John Vissing, 2002, Annals of neurology.

No need for ischemia in the forearm exercise test for McArdles disease

R. Haller, J. Vissing, E. Skomorowska, 2000 .

Oral branched-chain amino acids do not improve exercise capacity in McArdle disease

R. Haller, J. Vissing, S. Vissing, 1998, Neurology.

High‐resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease

M. Schwartz, J. Vissing, M. Duno, 2009, Annals of Human Genetics.

254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022

E. Mercuri, B. Bartels, H. Lochmüller, 2023, Neuromuscular Disorders.

J. Vissing, M. Duno, A. Born, 2015, Muscle & nerve.

A forearm exercise screening test for mitochondrial myopathy

J. Vissing, John Vissing, Elwira Skomorowska, 2002, Neurology.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

D. Papanicolaou, V. S. Williams, P. Bergh, 2019, The Lancet Neurology.

Muscle biopsies off-set normal cellular signaling in surrounding musculature

J. Vissing, J. Dahlqvist, T. Krag, 2013, Neuromuscular Disorders.

Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease

A. Santalla, J. Vissing, N. Voermans, 2023, Nutrients.

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

A. Santalla, G. Nogales-Gadea, J. Arenas, 2022, Molecular metabolism.

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

S. Dimauro, C. Bacino, R. Haller, 2018, Neurology.

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

P. Laforêt, A. Buch, J. Vissing, 2017, Neurology.

G.P.117 Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV)

J. Holton, R. Haller, J. Vissing, 2015, Neuromuscular Disorders.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

P. Bergh, R. Lachmann, P. Laforêt, 2019, Neuromuscular Diseases.

Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up.

J. Vissing, H. Andersen, J. M. Schlütter, 2014, Molecular genetics and metabolism.

Muscle phenotype in patients with myotonic dystrophy type 1

G. Andersen, J. Vissing, M. Duno, 2013, Muscle & nerve.

Visual impairment in anti‐GQ1b positive Miller Fisher syndrome

J. Vissing, E. Colding-Jørgensen, 2001, Acta neurologica Scandinavica.

P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy

J. Vissing, Z. Lukacs, K. Madsen, 2011, Neuromuscular Disorders.

No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

J. Vissing, M. Ørngreen, T. Krag, 2020, Neuromuscular Disorders.

Muscle phosphorylase kinase deficiency

S. Dimauro, A. Echaniz-Laguna, P. Laforêt, 2012, Neurology.

Disease progression and outcome measures in spinobulbar muscular atrophy

J. Vissing, J. Dahlqvist, S. Oestergaard, 2018, Annals of neurology.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

K. Majamaa, J. Vissing, N. Darín, 2021, Journal of Medical Genetics.

Axial myopathy: an overlooked feature of muscle diseases.

J. Vissing, N. Witting, L. Andersen, 2016, Brain : a journal of neurology.

A quantitative method to assess muscle edema using short TI inversion recovery MRI

J. Vissing, C. Thomsen, J. Dahlqvist, 2020, Scientific Reports.

Contractile properties are impaired in congenital myopathies

J. Vissing, N. Witting, J. Dahlqvist, 2020, Neuromuscular Disorders.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

K. Fischbeck, B. Minton, A. Ludolph, 2018, The Lancet Neurology.

Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis

M. H. Jørgensen, J. Vissing, L. Borgwardt, 2022, Acta paediatrica.

Patients with severe muscle wasting are prone to develop hypoglycemia during fasting

J. Vissing, M. Laub, M. Zacho, 2003, Neurology.

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

J. Vissing, N. Witting, 2014, JAMA neurology.

Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.

J. Vissing, U. Werlauff, N. Witting, 2021, Journal of neuromuscular diseases.

G.P.166 Muscle strength relative to cross-sectional area in hypertrophic calf muscles of patients affected by limb girdle type 2I and Becker muscular dystrophies

J. Vissing, C. Thomsen, G. Hedermann, 2015, Neuromuscular Disorders.

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype

J. Vissing, N. Witting, M. Duno, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Diagnosis and management of metabolic myopathies

J. Vissing, Salman F Bhai, 2023, Muscle & nerve.

Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

J. Vissing, Patrick Soldath, Allan Lund, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Jonathan C. Cohen, Sun Young Park, R. Haller, 2017, Molecular genetics and metabolism.

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

J. Vissing, C. Fagerberg, B. Bentzen, 2018, Neurology: Genetics.

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

L. Servais, G. Siciliano, H. Lochmüller, 2021, Journal of neuromuscular diseases.

Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study

J. Vissing, U. Werlauff, B. Steffensen, 2012, Neuromuscular Disorders.

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy

J. Vissing, M. Duno, V. Straub, 2022, Human mutation.

Exercise in muscle glycogen storage diseases

R. Haller, J. Vissing, N. Preisler, 2015, Journal of Inherited Metabolic Disease.

Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study

J. Vissing, N. Witting, K. Rudolf, 2021, Frontiers in Neurology.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

A. Lucia, G. Nogales-Gadea, J. Arenas, 2019, Scientific Reports.

Differences in genetic defects and morphology of eye‐ and limb muscles in mitochondrial myopathy

J. Vissing, M. Duno, P. Toft, 2015, Acta ophthalmologica.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

N. Tommerup, R. Møller, H. Hjalgrim, 2014, Annals of clinical and translational neurology.

Two- and 6-minute walk tests assess walking capability equally in neuromuscular diseases

J. Vissing, N. Witting, K. Knak, 2016, Neurology.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

E. Bertini, M. Tarnopolsky, G. Enns, 2023, Neurology.

Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy

B. Jensen, J. Vissing, E. Husu, 2014, Neuromuscular Disorders.

Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale

J. Vissing, U. Werlauff, A. Højberg, 2014, Quality of Life Research.

Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1

J. Vissing, N. Witting, H. Andersen, 2020, Neurology.

Remodel mitochondria and get energized

C. Angelini, J. Vissing, 2018, Neurology.

Static muscle contraction reflexly increases adrenal sympathetic nerve activity in rats.

J. Mitchell, J. Vissing, R. Victor, 1991, The American journal of physiology.

Severe axial myopathy in McArdle disease.

J. Vissing, N. Witting, M. Duno, 2014, JAMA neurology.

144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September–1 November 2006, Naarden, The Netherlands

J. Vissing, R. Quinlivan, John Vissing, 2007, Neuromuscular Disorders.

Muscle strength in myasthenia gravis

J. Vissing, S. Cejvanovic, 2014, Acta neurologica Scandinavica.

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

C. Crone, J. Vissing, I. Christiansen, 2013, Clinical Neurophysiology.

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

J. Vissing, M. Duno, A. Born, 2023, Neuromuscular Disorders.

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

J. Vissing, M. Duno, M. Ballegaard, 2021, Neuropediatrics.

P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

R. Carlier, E. Pegoraro, P. Laforêt, 2013, Neuromuscular Disorders.

Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement

J. Vissing, N. Witting, K. Rudolf, 2021, Frontiers in Neurology.

Alterations in the supramolecular interactions of respiratory chain complexes and enhanced superoxide production by the cytochrome b Y278C mutation which causes a multisystem disorder

F. Daldal, A. Martinuzzi, J. Vissing, 2012 .

Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations

A. Fornili, E. Zanoteli, J. Vissing, 2023, Acta physiologica.

Low skeletal muscle mass and liver fibrosis in children with cerebral palsy.

M. H. Jørgensen, J. Vissing, L. Borgwardt, 2023, European Journal of Pediatrics.

Aerobic anti‐gravity exercise in patients with Charcot–Marie–Tooth disease types 1A and X: A pilot study

J. Vissing, K. Knak, L. Andersen, 2017, Brain and behavior.

EFFECTS OF IV GLUCOSE AND ORAL MEDIUM-CHAIN TRIGLYCERIDE IN PATIENTS WITH VLCAD DEFICIENCY

J. Vissing, B. Vistisen, M. Ørngreen, 2007, Neurology.

Muscle structural changes in mitochondrial myopathy relate to genotype

M. Schwartz, J. Vissing, D. Olsen, 2003, Journal of Neurology.

Update on new muscle glycogenosis

E. Malfatti, P. Laforêt, J. Vissing, 2017, Current opinion in neurology.

Effect of prior immobilization on muscular glucose clearance in resting and running rats.

T. Ohkuwa, J. Vissing, H. Galbo, 1988, American Journal of Physiology.

Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients

J. Vissing, A. Wakelin, R. Quinlivan, 2023, Neuromuscular Disorders.

McArdle disease: a clinical review

M. Rose, C. Bruno, J. Vissing, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Axial myopathy: an overlooked feature of muscle diseases.

J. Vissing, N. Witting, L. Andersen, 2016, Brain : a journal of neurology.

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

G. Andersen, J. Vissing, G. van Hall, 2015, American journal of physiology. Regulatory, integrative and comparative physiology.

J. Vissing, M. Duno, A. Born, 2015, Muscle & nerve.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT.

D. Papanicolaou, V. S. Williams, L. Tankó, 2021, Neurology.

Hypokalemic periodic paralysis: a 3-year follow-up study

J. Vissing, N. Witting, J. Dahlqvist, 2023, Journal of Neurology.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

A. Lucia, G. Nogales-Gadea, J. Arenas, 2019, Scientific Reports.

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

L. Køber, J. Vissing, T. Jeppesen, 2008, Brain : a journal of neurology.

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

H. Eiberg, H. Bundgaard, M. Melbye, 2014, European heart journal.

High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.

K. Kyvik, M. Schwartz, A. Frederiksen, 2009, Journal of Clinical Endocrinology and Metabolism.

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study

M. Frost, A. Frederiksen, J. Vissing, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Muscle biopsies off-set normal cellular signaling in surrounding musculature

J. Vissing, J. Dahlqvist, T. Krag, 2013, Neuromuscular Disorders.

Bezafibrate Does Not Improve Fat Oxidation in Patients with Disorders of Fat Metabolism; a Double Blind, Randomized Clinical Trial (S05.006)

P. Laforêt, G. Andersen, J. Vissing, 2013 .

Mechanisms of exertional fatigue in muscle glycogenoses

R. Haller, J. Vissing, 2012, Neuromuscular Disorders.

T.P.47 Bezafibrate does not improve fat oxidation in patients with disorders of fat metabolism; a double blind, randomized clinical trial

P. Laforêt, G. Andersen, J. Vissing, 2012, Neuromuscular Disorders.

Results of an open label feasibility study of sodium valproate in people with McArdle disease

J. Holton, R. Haller, J. Vissing, 2020, Neuromuscular Disorders.

Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis

M. Benatar, R. Barohn, J. Kissel, 2019, Muscle & nerve.