John Vissing
Clinical Professor
- 2018
- Published
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
Sloth, C. K., Denti, F., Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, C., Vissing, John & Gaist, D., Oct 2018, In: Neurology: Genetics. 4, 5, p. e267 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
MRI in sarcoglycanopathies: a large international cohort study
Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, , Jan 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016
Wood, L., Bassez, G., van Engelen, B., Lochmüller, H., Schoser, B., 222nd ENMC workshop participants, 2. E. W. P., Atalaiae, A., Balabanovf, P., Bassez, G., Treweek, S., Vissing, John & Wood, L., 2018, In: Neuromuscular Disorders. 28, 5, p. 463-469Research output: Contribution to journal › Comment/debate › Research
- Published
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017
Straub, V., Murphy, A., Udd, B., LGMD workshop study group, L. W. S. G., Angelini, C., Aymé, S., Bönnemann, C., Urtizberea, A., Vissing, John & Walter, M., 2018, In: Neuromuscular Disorders. 28, 8, p. 702-710Research output: Contribution to journal › Comment/debate › Research
- Published
233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017
Lostal, W., Urtizberea, J. A., Richard, I., calpain 3 study group, C. 3. S. G., Alonso-Jiménez, A., Carlier, R., Carson, V., Vainzof, M., Vissing, John & Walter, M., 2018, In: Neuromuscular Disorders. 28, 6, p. 540-549Research output: Contribution to journal › Comment/debate › Research
- Published
BAG3 myopathy is not always associated with cardiomyopathy
Andersen, A. G., Fornander, F., Schrøder, H. D., Krag, T., Straub, V., Duno, M. & Vissing, John, 2018, In: Neuromuscular Disorders. 28, 9, p. 798-801Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Altered somatosensory neurovascular response in patients with Becker muscular dystrophy
Lindberg, U., Kruuse, Christina Rostrup, Witting, N., Jørgensen, S. L., Vissing, John, Rostrup, E. & Larsson, Henrik Bo Wiberg, 2018, In: Brain and Behavior. 8, 6, 9 p., e00985.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
Witting, N., Krag, T., Werlauff, U., Duno, M., Oestergaard, S. T., Dahlqvist, J. R. & Vissing, John, 2018, In: Muscle & Nerve. 57, 6, p. 1026-1030Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, , 2018, In: Annals of Neurology. 83, 6, p. 1105-1124 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
Vissing, John, O'Brien, F., Wang, J. J. & Howard, J. F., 2018, In: Muscle & Nerve. 58, 2, p. E21-E22Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
Johnson, K., Bertoli, M., Phillips, L., Töpf, A., Van den Bergh, P., Vissing, J., Witting, N., Nafissi, S., Jamal-Omidi, S., Łusakowska, A., Kostera-Pruszczyk, A., Potulska-Chromik, A., Deconinck, N., Wallgren-Pettersson, C., Strang-Karlsson, S., Colomer, J., Claeys, K. G., De Ridder, W., Baets, J., von der Hagen, M. & 12 others, , 2018, In: Skeletal Muscle. 8, 12 p., 23.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Disease progression and outcome measures in spinobulbar muscular atrophy
Dahlqvist, J. R., Fornander, F., de Stricker Borch, J., Oestergaard, S. T., Poulsen, N. S. & Vissing, John, 2018, In: Annals of Neurology. 84, 5, p. 754-765 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse
Nielsen, T. L., Pinós, T., Brull, A., Vissing, John & Krag, T. O., 2018, In: Molecular Genetics and Metabolism. 123, 1, p. 21-27Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Abu Bakar, N., Voermans, N. C., Marquardt, T., Thiel, C., Janssen, M. C. H., Hansikova, H., Crushell, E., Sykut-Cegielska, J., Bowling, F., MØrkrid, L., Vissing, John, Morava, E., van Scherpenzeel, M. & Lefeber, D. J., 2018, In: Translational Research. 199, p. 62-76 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency
Madsen, K. L., Preisler, N., Rasmussen, J., Hedermann, G., Olesen, J. H., Lund, A. M. & Vissing, John, 2018, In: The Journal of clinical endocrinology and metabolism. 103, 12, p. 4580-4588Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort
Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstræde, K. B., Vissing, John, Dunø, M., Thomassen, M. & Frederiksen, A. L., 2018, In: Clinical Genetics. 93, 4, p. 925-928 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency
Vissing, John, Akman, H. O., Aasly, J., Kahler, S. G., Bacino, C. A., DiMauro, S. & Haller, R. G., 2018, In: Neurology. 91, 11, p. e1077-e1082Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Limb girdle muscular dystrophy due to mutations in POMT2
Østergaard, S. T., Johnson, K., Stojkovic, T., Krag, T., De Ridder, W., De Jonghe, P., Baets, J., Claeys, K. G., Fernández-Torrón, R., Phillips, L., Topf, A., Colomer, J., Nafissi, S., Jamal-Omidi, S., Bouchet-Seraphin, C., Leturcq, F., MacArthur, D. G., Lek, M., Xu, L., Nelson, I. & 2 others, , 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, 5, p. 506-512Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
Witting, N., Laforêt, P., Voermans, N. C., Roux-Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, John & Behin, A., 2018, In: Acta Neurologica Scandinavica. 137, 5, p. 452-461 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA
Hedermann, G., Dahlqvist, J. R., Løkken, N., Vissing, C. R., Knak, K. L., Andersen, L. K., Thomsen, C. & Vissing, John, 2018, In: Neuromuscular Disorders. 28, 5, p. 408-413Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Remodel mitochondria and get energized
Vissing, John & Angelini, C., 2018, In: Neurology. 90, 14, p. 633-634Research output: Contribution to journal › Editorial › Research
- Published
Resistance training and aerobic training improve muscle strength and aerobic capacity in chronic inflammatory demyelinating polyneuropathy
Markvardsen, L. H., Overgaard, K., Heje, K., Sindrup, S. H., Christiansen, I., Vissing, John & Andersen, H., 2018, In: Muscle & Nerve. 57, 1, p. 70-76Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
Grunseich, C., Miller, R., Swan, T., Glass, D. J., El Mouelhi, M., Fornaro, M., Petricoul, O., Vostiar, I., Roubenoff, R., Meriggioli, M. N., Kokkinis, A., Guber, R. D., Budron, M. S., Vissing, J., Soraru, G., Mozaffar, T., Ludolph, A., Kissel, J. T., Fischbeck, K. H., Grunseich, C. & 30 others, , 2018, In: The Lancet Neurology. 17, 12, p. 1043-1052 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for late-onset Pompe disease in western Denmark
Hansen, J. S., Pedersen, E. G., Gaist, D., Bach, F. W., Vilholm, O. J., Sandal, B., Weitemeyer, L., Nielsen, K., Schlesinger, F. E., Preisler, N., Vissing, John & Andersen, H., 2018, In: Acta Neurologica Scandinavica. 137, 1, p. 85-90 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The 2- and 6-Minute Walk Tests in Neuromuscular Diseases: Effect of Heart Rate Correction on the Learning Effect
Knak, K. L., Andersen, L. K., Witting, N. & Vissing, John, 2018, In: International Journal of Physical Medicine & Rehabilitation. 5, 5 p., 415.Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency
Stemmerik, M. G., Madsen, K. L., Laforêt, P., Buch, A. E. & Vissing, John, 12 Dec 2017, In: Neurology. 89, 24, p. 2491-2494 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou, R., Hubert, A., Nelson, I., Dahlqvist, J. R., Gaist, D., Streichenberger, N., Beuvin, M., Krahn, M., Petiot, P., Parisot, F., Michel, F., Malfatti, E., Romero, N., Carlier, R. Y., Eymard, B., Labrune, P., Duno, M., Krag, T., Cerino, M., Bartoli, M. & 4 others, , Dec 2017, In: Neurology: Genetics. 3, 6, 11 p., e208.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
Jeppesen, T. D., Al-Hashimi, N., Duno, M., Wibrand, F., Andersen, G. & Vissing, John, Dec 2017, In: Clinical Case Reports. 5, 12, p. 2034-2039 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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
Howard, J. F., Utsugisawa, K., Benatar, M., Murai, H., Barohn, R. J., Illa, I., Jacob, S., Vissing, John, Burns, T. M., Kissel, J. T., Muppidi, S., Nowak, R. J., O'Brien, F., Wang, J., Mantegazza, R. & REGAIN Study Group, R. S. G., Dec 2017, In: Lancet Neurology. 16, 12, p. 976-986 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report
Soldath, P., Madsen, K. L., Buch, A. E., Duno, M., Wibrand, F. & Vissing, John, Oct 2017, In: BMC Musculoskeletal Disorders. 18, 6 p., 419.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency
Gaist, D., Mogensen, J., Pedersen, E. G., Schrøder, H. D., Vissing, John, Andersen, H. & Hertz, J. M., 15 Aug 2017, In: Journal of the Neurological Sciences. 379, p. 217-218 2 p.Research output: Contribution to journal › Comment/debate › Research
- Published
Skeletal muscle metabolism during prolonged exercise in Pompe disease
Preisler, N., Laforêt, P., Madsen, K. L., Husu, E., Vissing, C. R., Hedermann, G., Galbo, Henrik, Lindberg, C. & Vissing, John, Aug 2017, In: Endocrine Connections. 6, 6, p. 384-394 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T. M., van Doorn, P. A., Van den Bergh, P. Y. K., Vissing, John, Schoser, B. & European Pompe Consortium, E. P. C., Jun 2017, In: European Journal of Neurology. 24, 6, p. 768-e31Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
Witting, N., Werlauff, U., Duno, M. & Vissing, John, Apr 2017, In: Neurology: Genetics. 3, 2, 15 p., e140.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy
Svenstrup, K., Nielsen, T. T., Aidt, F., Rostgaard, N., Duno, M., Wibrand, F., Vinther-Jensen, T., Law, Ian, Vissing, John, Roos, P., Hjermind, L. E. & Nielsen, Jørgen Erik, Feb 2017, In: The Cerebellum. 16, 1, p. 62-67 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA
Pedersen, G. H., Løkken, N., Dahlqvist, J. R. & Vissing, John, Jan 2017, In: Mitochondrion. 32, p. 27-30 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy
Lindberg, U., Witting, N., Jørgensen, S. L., Vissing, John, Rostrup, E., Larsson, Henrik Bo Wiberg & Kruuse, Christina Rostrup, Jan 2017, In: Neurotherapeutics. 14, 1, p. 182-190Research output: Contribution to journal › Journal article › Research › peer-review
- Published
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France
Sarcoglycanopathies Working Group, S. W. G., 2017, In: Neuromuscular Disorders. 27, 7, p. 683-692Research output: Contribution to journal › Conference article › Research
- Published
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
Workshop Participants, W. P. & Vissing, John, 2017, In: Neuromuscular Disorders. 27, 12, p. 1143-1151Research output: Contribution to journal › Comment/debate › Research
- Published
Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study
Knak, K. L., Andersen, L. K. & Vissing, John, 2017, In: Brain and Behavior. 7, 12, 5 p., e00794.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Aerobic training in myotonia congenita: Effect on myotonia and fitness
Andersen, G., Løkken, N. & Vissing, John, 2017, In: Muscle and Nerve. 56, 4, p. 696-699 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults
Dahlqvist, J. R., Vissing, C. R., Hedermann, G., Thomsen, C. & Vissing, John, 2017, In: Medicine and Science in Sports and Exercise. 49, 3, p. 595-601Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Glycogen synthesis in glycogenin 1-deficient patients: A role for glycogenin 2 in muscle
Krag, T. O., Ruiz-Ruiz, C. & Vissing, John, 2017, In: Journal of Clinical Endocrinology and Metabolism. 102, 8, p. 2690-2700 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial
Andersen, G., Heje, K., Buch, A. E. & Vissing, John, 2017, In: Journal of Neurology. 264, 6, p. 1099-1106Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy
Prahm, K. P., Feldt-Rasmussen, Ulla & Vissing, John, 2017, In: Neuromuscular Disorders. 27, 4, p. 358-362Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
Preisler, N., Cohen, J., Vissing, C. R., Madsen, K. L., Heinicke, K., Sharp, L. J., Phillips, L., Romain, N., Park, S. Y., Newby, M., Wyrick, P., Mancias, P., Galbo, Henrik, Vissing, John & Haller, R. G., 2017, In: Molecular Genetics and Metabolism. 122, 3, p. 117-121Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Leber hereditary optic neuropathy due to a new ND1 mutation
Soldath, P., Wegener, Marianne, Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, John, 2017, In: Ophthalmic Genetics. 38, 5, p. 480-485 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients
Andersen, G., Dahlqvist, J. R., Vissing, C. R., Heje, K., Thomsen, C. & Vissing, John, 2017, In: Journal of Neurology. 264, 3, p. 438-447Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study
Langdahl, J. H., Frederiksen, A. L., Hansen, S. J., Andersen, P. H., Yderstraede, K. B., Dunø, M., Vissing, John & Frost, M., 2017, In: Journal of Bone and Mineral Research. 32, 10, p. 2041-2048Research output: Contribution to journal › Journal article › Research › peer-review
- Published
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
Voermans, N. C., Preisler, N., Madsen, K. L., Janssen, M. C. H., Kusters, B., Abu Bakar, N., Conte, F., Lamberti, V. M. L., Nusman, F., van Engelen, B. G., van Scherpenzeel, M., Vissing, John & Lefeber, D. J., 2017, In: Neuromuscular Disorders. 27, 4, p. 370-376Research output: Contribution to journal › Journal article › Research › peer-review
ID: 915367
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245
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
Research output: Contribution to journal › Journal article › Research › peer-review
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225
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Reliability of the 2- and 6-minute walk tests in neuromuscular diseases
Research output: Contribution to journal › Letter › Research › peer-review
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186
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Aerobic Training in Patients with Congenital Myopathy
Research output: Contribution to journal › Journal article › Research › peer-review
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