John Vissing

Research output

Research output per year 1988 2009 2013 2014 2015 2016 2017 2018 2019

• 180 Journal article
• 11 Book chapter
• 11 Comment/debate
• 5 Review
• 5 More
  • 3 Letter
  • 1 Conference article
  • 1 Editorial

Research output per year

Research output per year

Search results

• 2019

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

  Fritzen, A. M., Thøgersen, F. B., Thybo, K., Vissing, C. R., Krag, T. O., Ruiz-Ruiz, C., Risom, L., Wibrand, F., Høeg, L. D., Kiens, B., Duno, M., Vissing, J. & Jeppesen, T. D., Mar 2019, In: Cells. 8, 3, 16 p., 237.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Mitochondrial DNA 100%
  • Enzyme Activity 78%
  • Skeletal Muscle 75%
  • Citrate (si)-Synthase 64%
  • Cardiolipin 62%
  49 Downloads (Pure)

• Expanding the phenotype of filamin-C-related myofibrillar myopathy

  Borch, J. D. S., Eisum, A. S. V., Krag, T. & Vissing, J., 2019, In: Clinical Neurology and Neurosurgery. 176, p. 30-33 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Autosomal dominant Filaminopathy 100%
  • Myofibrillar Myopathy 71%
  • Filamins 60%
  • Paraspinal Muscles 54%
  • Temporomandibular Joint 46%
  2 Citations (Scopus)

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

  Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E., & 3 othersHardeman, E. C., Wallgren-Pettersson, C. & Ochala, J., 2019, In: Acta Neuropathologica. 138, 3, p. 477-495 19 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Nemaline Myopathies 100%
  • Nuclear Envelope 70%
  • Cytoskeleton 41%
  • Cytoskeletal Proteins 25%
  • Mutation 23%
  4 Citations (Scopus)

  12 Downloads (Pure)

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

  Real-Martinez, A., Brull, A., Huerta, J., Tarrasó, G., Lucia, A., Martin, M. A., Arenas, J., Andreu, A. L., Nogales-Gadea, G., Vissing, J., Krag, T. O., de Luna, N. & Pinós, T., 1 Dec 2019, In: Scientific Reports. 9, 1, 14 p., 5116.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycogen Storage Disease Type V 100%
  • Glycogen 51%
  • Survival Rate 46%
  • Muscles 36%
  • Glycogen Phosphorylase 17%
  4 Citations (Scopus)

  2 Downloads (Pure)

• Muscle contractility in spinobulbar muscular atrophy

  Dahlqvist, J. R., Oestergaard, S. T., Poulsen, N. S., Knak, K. L., Thomsen, C. & Vissing, J., 1 Dec 2019, In: Scientific Reports. 9, 1, 8 p., 4680.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • X-Linked Bulbo-Spinal Atrophy 100%
  • Muscles 38%
  • Fats 20%
  • Muscle Strength 18%
  • Trinucleotide Repeat Expansion 13%
  7 Citations (Scopus)

  2 Downloads (Pure)

• Muscle contractility of leg muscles in patients with mitochondrial myopathies

  Poulsen, N. S., Dahlqvist, J. R., Hedermann, G., Løkken, N. & Vissing, J., May 2019, In: Mitochondrion. 46, p. 221-227

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Mitochondrial Myopathies 100%
  • Leg 55%
  • Muscles 40%
  • Thigh 18%
  • Muscle Contraction 11%
  2 Citations (Scopus)

• Paternal comeback in mitochondrial DNA inheritance

  Vissing, J., 29 Jan 2019, In: Proceedings of the National Academy of Sciences of the United States of America. 116, 5, p. 1475-1476

  Research output: Contribution to journal › Comment/debate › Research

  9 Citations (Scopus)

• Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

  Dahlqvist, J. R., Oestergaard, S. T., Poulsen, N. S., Thomsen, C. & Vissing, J., 5 Feb 2019, In: Neurology. 92, 6, p. e548-e559

  Research output: Contribution to journal › Journal article › Research › peer-review

  • X-Linked Bulbo-Spinal Atrophy 100%
  • Muscles 38%
  • Phenotype 38%
  • Fats 33%
  • Muscle Strength 20%
  13 Citations (Scopus)

• 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, ascending dose study

  NEO1 Investigator Group, Mar 2019, In: Neuromuscular Disorders. 29, 3, p. 167-186

  Research output: Contribution to journal › Journal article › Research › peer-review

  • human GAA protein 100%
  • Glycogen Storage Disease Type II 83%
  • Late Onset Disorders 77%
  • Enzyme Replacement Therapy 75%
  • Pharmacokinetics 43%
  15 Citations (Scopus)

  33 Downloads (Pure)
• 2018

  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, Atalaiae, A., Balabanovf, P., Bassez, G., Treweek, S., Vissing, J. & Wood, L., May 2018, In: Neuromuscular Disorders. 28, 5, p. 463-469

  Research output: Contribution to journal › Comment/debate › Research

  5 Citations (Scopus)

• 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, Angelini, C., Aymé, S., Bönnemann, C., Urtizberea, A., Vissing, J. & Walter, M., Aug 2018, In: Neuromuscular Disorders. 28, 8, p. 702-710

  Research output: Contribution to journal › Comment/debate › Research

  91 Citations (Scopus)

• 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, Alonso-Jiménez, A., Carlier, R-Y., Carson, V., Vainzof, M., Vissing, J. & Walter, M., Jun 2018, In: Neuromuscular Disorders. 28, 6, p. 540-549

  Research output: Contribution to journal › Comment/debate › Research

  1 Citation (Scopus)

• Altered somatosensory neurovascular response in patients with Becker muscular dystrophy

  Lindberg, U., Kruuse, C., Witting, N., Jørgensen, S. L., Vissing, J., Rostrup, E. & Larsson, H. B. W., 2018, In: Brain and Behavior. 8, 6, 9 p., e00985.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Duchenne Muscular Dystrophy 100%
  • Nitric Oxide Synthase Type I 89%
  • Dystrophin 35%
  • Somatosensory Cortex 32%
  • Brain 27%
  1 Citation (Scopus)

  23 Downloads (Pure)

• BAG3 myopathy is not always associated with cardiomyopathy

  Andersen, A. G., Fornander, F., Schrøder, H. D., Krag, T., Straub, V., Duno, M. & Vissing, J., Sept 2018, In: Neuromuscular Disorders. 28, 9, p. 798-801

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Muscular Diseases 100%
  • Cardiomyopathies 90%
  • Myofibrillar Myopathy 54%
  • Muscle Rigidity 43%
  • Ambulatory Electrocardiography 38%
  5 Citations (Scopus)

• 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, J., Jun 2018, In: Muscle & Nerve. 57, 6, p. 1026-1030

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Quadriceps Muscle 100%
  • Muscular Diseases 99%
  • Atrophy 80%
  • Collagen 70%
  • Fibroblasts 68%
  3 Citations (Scopus)

• 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 othersRyan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., 2018, In: Annals of Neurology. 83, 6, p. 1105-1124 20 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Protein Isoforms 100%
  • Mutation 69%
  • Skeletal Muscle 65%
  • Connectin 59%
  • Ophthalmoplegia 54%
  37 Citations (Scopus)

• 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, J., O'Brien, F., Wang, J. J. & Howard, J. F., Aug 2018, In: Muscle & Nerve. 58, 2, p. E21-E22

  Research output: Contribution to journal › Journal article › Research › peer-review

  6 Citations (Scopus)

• 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 othersFernández-Torrón, R., Zulaica Ijurco, M., Espinal Valencia, J. B., Hahn, A., Durmus, H., Willis, T., Xu, L., Valkanas, E., Mullen, T. E., Lek, M., MacArthur, D. G. & Straub, V., 30 Jul 2018, In: Skeletal Muscle. 8, 12 p., 23.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Whole Exome Sequencing 100%
  • Muscle Weakness 89%
  • Extremities 62%
  • Genes 33%
  • Dystroglycans 13%
  16 Citations (Scopus)

  28 Downloads (Pure)

• 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, J., Nov 2018, In: Annals of Neurology. 84, 5, p. 754-765 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • X-Linked Bulbo-Spinal Atrophy 100%
  • Disease Progression 51%
  • Health Care Outcome Assessment 42%
  • Muscles 38%
  • Fats 32%
  10 Citations (Scopus)

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

  Nielsen, T. L., Pinós, T., Brull, A., Vissing, J. & Krag, T. O., Jan 2018, In: Molecular Genetics and Metabolism. 123, 1, p. 21-27

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycogenolysis 100%
  • Glycogen 87%
  • Glycogen Storage Disease Type V 53%
  • Muscles 44%
  • Glucose 43%
  2 Citations (Scopus)

• Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

  Sloth, C. K., Denti, F., Schmitt, N., Bentzen, B. H., Fagerberg, C., Vissing, J. & Gaist, D., Oct 2018, In: Neurology: Genetics. 4, 5, p. e267 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  27 Downloads (Pure)

• 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, J., Morava, E., van Scherpenzeel, M. & Lefeber, D. J., Sept 2018, In: Translational Research. 199, p. 62-76 15 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Phosphoglucomutase 100%
  • Galactose 69%
  • Transferrin 68%
  • Glycosylation 62%
  • Congenital Disorders of Glycosylation 56%
  9 Citations (Scopus)

  27 Downloads (Pure)

• 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, J., 2018, In: The Journal of clinical endocrinology and metabolism. 103, 12, p. 4580-4588

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Systemic carnitine deficiency 100%
  • Carnitine 79%
  • Fat 57%
  • Skeletal Muscle 46%
  • Fats 44%
  5 Citations (Scopus)

• 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, J., 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

  • antineoplaston A10 100%
  • Leukocytes 64%
  • Mutation 45%
  • Mitochondrial Encephalomyopathies 31%
  • Phenotype 24%
  6 Citations (Scopus)

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

  Vissing, J., Akman, H. O., Aasly, J., Kahler, S. G., Bacino, C. A., DiMauro, S. & Haller, R. G., 2018, In: Neurology. 91, 11, p. e1077-e1082

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Phosphoglycerate Kinase 1 Deficiency 100%
  • Phenotype 31%
  • Enzymes 28%
  • Muscular Diseases 20%
  • Phosphoglycerate Kinase 19%
  3 Citations (Scopus)

• 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 othersStraub, V. & Vissing, J., 1 May 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, 5, p. 506-512

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Limb-Girdle Muscular Dystrophies 100%
  • Transferases 68%
  • Muscles 40%
  • Mutation 37%
  • Paraspinal Muscles 29%
  9 Citations (Scopus)

• 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 othersMagnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 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

  • Sarcoglycanopathies 100%
  • Type 2C Limb-girdle muscular dystrophy 45%
  • Cohort Studies 38%
  • Muscles 34%
  • Limb-girdle muscular dystrophy type 2F 25%
  26 Citations (Scopus)

• 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-J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J. & Behin, A., May 2018, In: Acta Neurologica Scandinavica. 137, 5, p. 452-461 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Rhabdomyolysis 100%
  • Ryanodine Receptor Calcium Release Channel 99%
  • Myalgia 88%
  • Genotype 57%
  • Muscles 48%
  11 Citations (Scopus)

• 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, J., May 2018, In: Neuromuscular Disorders. 28, 5, p. 408-413

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Chronic Progressive External Ophthalmoplegia 100%
  • Mitochondrial DNA 91%
  • Fats 65%
  • Muscles 52%
  • Muscle Strength 22%
  5 Citations (Scopus)

• Remodel mitochondria and get energized

  Vissing, J. & Angelini, C., 3 Apr 2018, In: Neurology. 90, 14, p. 633-634

  Research output: Contribution to journal › Editorial

• 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, J. & Andersen, H., Jan 2018, In: Muscle & Nerve. 57, 1, p. 70-76

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Chronic Inflammatory Demyelinating Polyradiculoneuropathy 100%
  • Resistance Training 79%
  • Muscle Strength 72%
  • Exercise 46%
  • Elbow 11%
  9 Citations (Scopus)

• 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 othersMiller, R., Swan, T., Glass, D. J., Mouelhi, M. E., Fornaro, M., Petricoul, O., Vostiar, I., Roubenoff, R., Meriggioli, M. N., Dahlqvist, J., Witting, N., Vissing, J., Martinelli, I., Querin, G., Soraru, G., Goyal, N. A., Cash, T. M., Minton, B., Mozaffar, T., Rosenbohm, A., Weiland, U., Weydt, P., Ludolph, A., Chelnick, S., Iyadurai, S., King, W., Kissel, J. T., Budron, M. S., Guber, R. D. & Kokkinis, A., 2018, In: The Lancet Neurology. 17, 12, p. 1043-1052 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • X-Linked Bulbo-Spinal Atrophy 100%
  • Somatomedins 68%
  • Placebos 44%
  • Randomized Controlled Trials 43%
  • Safety 37%
  12 Citations (Scopus)

• 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, J. & Andersen, H., Jan 2018, In: Acta Neurologica Scandinavica. 137, 1, p. 85-90 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycogen Storage Disease Type II 100%
  • Late Onset Disorders 92%
  • Denmark 73%
  • Muscular Diseases 27%
  • alpha-Glucosidases 24%
  4 Citations (Scopus)

• 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, J., 2018, In: International Journal of Physical Medicine & Rehabilitation. 5, 5 p., 415.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Neuromuscular Agents 100%
  • Neuromuscular Diseases 83%
  • Walk Test 80%
  • Learning 49%
  • Heart Rate 48%
  30 Downloads (Pure)
• 2017

  1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France

  Sarcoglycanopathies Working Group, Jul 2017, In: Neuromuscular Disorders. 27, 7, p. 683-692

  Research output: Contribution to journal › Conference article › Research

  4 Citations (Scopus)

• 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 & Vissing, J., Dec 2017, In: Neuromuscular Disorders. 27, 12, p. 1143-1151

  Research output: Contribution to journal › Comment/debate › Research

  4 Citations (Scopus)

• 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, J., Dec 2017, In: Brain and Behavior. 7, 12, 5 p., e00794.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Charcot-Marie-Tooth Disease 100%
  • Gravitation 84%
  • Exercise 48%
  • Tooth 39%
  • Walking 32%
  3 Citations (Scopus)

  63 Downloads (Pure)

• Aerobic training in myotonia congenita: Effect on myotonia and fitness

  Andersen, G., Løkken, N. & Vissing, J., 2017, In: Muscle and Nerve. 56, 4, p. 696-699 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Myotonia 100%
  • Myotonia Congenita 99%
  • Workload 34%
  • Endurance Training 21%
  • Muscles 20%
  4 Citations (Scopus)

• 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 othersBonne, G., Vissing, J., Laforet, P. & Petit, F. M., Dec 2017, In: Neurology: Genetics. 3, 6, 11 p., e208.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • glycogenin 100%
  • Genotype 57%
  • Muscles 47%
  • Phenotype 47%
  • Glycogen 41%
  1 Downloads (Pure)

• DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

  Gaist, D., Mogensen, J., Pedersen, E. G., Schrøder, H. D., Vissing, J., 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

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

  Pedersen, G. H., Løkken, N., Dahlqvist, J. R. & Vissing, J., Jan 2017, In: Mitochondrion. 32, p. 27-30 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Chronic Progressive External Ophthalmoplegia 100%
  • Mitochondrial DNA 68%
  • Deglutition Disorders 65%
  • Cold Temperature 21%
  • Water 21%
  6 Citations (Scopus)

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

  Lindberg, U., Witting, N., Jørgensen, S. L., Vissing, J., Rostrup, E., Larsson, H. B. W. & Kruuse, C., 1 Jan 2017, In: Neurotherapeutics. 14, 1, p. 182-190

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Sildenafil Citrate 100%
  • Duchenne Muscular Dystrophy 93%
  • Nitric Oxide Synthase Type I 57%
  • Dystrophin 28%
  • Oxygen 24%
  7 Citations (Scopus)

• 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, J., Schoser, B. & European Pompe Consortium, Jun 2017, In: European Journal of Neurology. 24, 6, p. 768-e31

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycogen Storage Disease Type II 100%
  • Enzyme Replacement Therapy 90%
  • Observational Studies 11%
  • Muscular Diseases 8%
  • Expert Testimony 8%
  68 Citations (Scopus)

• Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults

  Dahlqvist, J. R., Vissing, C. R., Hedermann, G., Thomsen, C. & Vissing, J., 1 Mar 2017, In: Medicine and Science in Sports and Exercise. 49, 3, p. 595-601

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Paraspinal Muscles 100%
  • Healthy Aging 93%
  • Fats 55%
  • Muscles 34%
  • Leg 28%
  45 Citations (Scopus)

• Glycogen synthesis in glycogenin 1-deficient patients: A role for glycogenin 2 in muscle

  Krag, T. O., Ruiz-Ruiz, C. & Vissing, J., 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

  • glycogenin 100%
  • Glycogen 63%
  • Muscles 31%
  • Glycogen Storage Disease 22%
  • polyglucosan 16%
  13 Citations (Scopus)

• High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial

  Andersen, G., Heje, K., Buch, A. E. & Vissing, J., 1 Jun 2017, In: Journal of Neurology. 264, 6, p. 1099-1106

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Facioscapulohumeral Muscular Dystrophy 100%
  • High-Intensity Interval Training 91%
  • Randomized Controlled Trials 43%
  • Exercise 25%
  • Neuromuscular Diseases 16%
  11 Citations (Scopus)

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

  Prahm, K. P., Feldt-Rasmussen, U. & Vissing, J., 1 Apr 2017, In: Neuromuscular Disorders. 27, 4, p. 358-362

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Limb-girdle muscular dystrophy type 2A 100%
  • Human Growth Hormone 73%
  • Walking 52%
  • Walk Test 20%
  • Muscle Strength 17%
  4 Citations (Scopus)

• 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, H., Vissing, J. & Haller, R. G., Nov 2017, In: Molecular Genetics and Metabolism. 122, 3, p. 117-121

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycogen Storage Disease XIV 100%
  • Glycogen 57%
  • Sucrose 44%
  • Mutation 40%
  • Glycogen Storage Disease Type V 38%
  8 Citations (Scopus)

• Leber hereditary optic neuropathy due to a new ND1 mutation

  Soldath, P., Wegener, M., Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, J., 2017, In: Ophthalmic Genetics. 38, 5, p. 480-485 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Leber's Hereditary Optic Atrophy 100%
  • Nerve Fibers 44%
  • Mutation 38%
  • Retinal Ganglion Cells 25%
  • Optical Coherence Tomography 22%
  3 Citations (Scopus)

• 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, J., Dec 2017, In: Clinical Case Reports. 5, 12, p. 2034-2039 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Lipoma 100%
  • Mitochondrial DNA 87%
  • Point Mutation 81%
  • Mutation 46%
  • Genotype 19%
  35 Downloads (Pure)