John Vissing
Clinical Professor
- 2020
- Published
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, , 29 Oct 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in late-onset Pompe disease (LOPD)
Schoser, B., Barohn, R., Byrne, B., Goker-Alpan, O., Kishnani, P., Ladha, S., Laforet, P., Mengel, E., Pena, L., Sacconi, S., Straub, V., Trivedi, J., Van Damme, P., van der Ploeg, A., Vissing, John, Young, P., Haack, K., Ivanina, I., Wang, Y. & Dimachkie, M., Oct 2020, In: Neuromuscular Disorders. 30, p. S49 1 p.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Pérez, J., González-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., Dam, L. T., De Visser, M., van der Kooi, A. J., Garrido, C., Santos, M., Schara, U., Gangfuß, A., Løkken, N. & 40 others, , 1 Sep 2020, In: Brain. 143, 9, p. 2696-2708 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Results of an open label feasibility study of sodium valproate in people with McArdle disease
Scalco, R. S., Stemmerik, M., Løkken, N., Vissing, C. R., Madsen, K. L., Michalak, Z., Pattni, J., Godfrey, R., Samandouras, G., Bassett, P., Holton, J. L., Krag, T., Haller, R. G., Sewry, C., Wigley, R., Vissing, John & Quinlivan, R., 1 Sep 2020, In: Neuromuscular Disorders. 30, 9, p. 734-741 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Contractile properties are impaired in congenital myopathies
Eisum, A. V., Fornander, F., Poulsen, N. S., Andersen, A. G., Dahlqvist, J., Andersen, L. K., Witting, N. & Vissing, John, 1 Aug 2020, In: Neuromuscular Disorders. 30, 8, p. 649-655 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Impaired lipolysis in propionic acidemia: A new metabolic myopathy?
Storgaard, J. H., Madsen, K. L., Løkken, N., Vissing, John, van Hall, Gerrit, Lund, A. M. & Ørngreen, M. C., May 2020, In: JIMD Reports. 53, 1, p. 16-21 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency
Andersen, A. G., Ørngreen, M. C., Raaschou-pedersen, D. E. T., Borch, J. D. S., Løkken, N., Krag, T. O., Petersen, M. B. & Vissing, John, 1 Apr 2020, In: Neuromuscular Disorders. 30, 4, p. 340-345 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, , Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy
Poulsen, N. S., Madsen, K. L., Hornsyld, T. M., Eisum, A. S. V., Fornander, F., Buch, A. E., Stemmerik, M. G., Ruiz-Ruiz, C., Krag, T. O. & Vissing, John, Jan 2020, In: Mitochondrion. 50, p. 35-41Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation
Echaniz-Laguna, A., Lornage, X., Laforêt, P., Orngreen, M. C., Edelweiss, E., Brochier, G., Bui, M. T., Silva-Rojas, R., Birck, C., Lannes, B., Romero, N. B., Vissing, John, Laporte, J. & Böhm, J., 2020, In: Annals of Neurology. 88, 2, p. 274-282Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity
Vissing, John, Dahlqvist, J. R., Roudaut, C., Poupiot, J., Richard, I., Duno, M. & Krag, T., 2020, In: Human Mutation. 41, 9, p. 1507-1513Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Absence of p.R50X Pygm read-through in McArdle disease cellular models
Tarrasó, G., Real-Martinez, A., Parés, M., Romero-Cortadellas, L., Puigros, L., Moya, L., Luna, N., Brull, A., Martín, M. A., Arenas, J., Lucia, A., Andreu, A. L., Barquinero, J., Vissing, John, Krag, T. O. & Pinós, T., 2020, In: Disease Models & Mechanisms. 13, 12 p., dmm043281.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdú-Díaz, J., Alonso-Pérez, J., Nuñez-Peralta, C., Tasca, G., Vissing, John, Straub, V., Fernández-Torrón, R., Llauger, J., Illa, I. & Díaz-Manera, J., 2020, In: Neurology. 94, 10, p. e1094-e1102Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy
Raz, V., Kroon, R. H. M. J. M., Mei, H., Riaz, M., Buermans, H., Lassche, S., Horlings, C., De Swart, B., Kalf, J., Harish, P., Vissing, John, Kielbasa, S. & van Engelen, B. G. M., 2020, In: International Journal of Molecular Sciences . 21, 17, p. 1-15 15 p., 6059.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults: A Randomized Clinical Trial
Rooks, D., Swan, T., Goswami, B., Filosa, L. A., Bunte, O., Panchaud, N., Coleman, L. A., Miller, R. R., Garcia Garayoa, E., Praestgaard, J., Perry, R. G., Recknor, C., Fogarty, C. M., Arai, H., Chen, L. K., Hashimoto, J., Chung, Y. S., Vissing, J., Laurent, D., Petricoul, O. & 4 others, , 2020, In: JAMA Network Open. 3, 10, 13 p., e2020836.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy
Salim, R., Dahlqvist, J. R., Khawajazada, T., Kass, K., Revsbech, K. L., de Stricker Borch, J., Munawar Sheikh, A. & Vissing, John, 2020, In: Journal of Neurology. 267, 8, p. 2432-2442Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinós, T., Andreu, A. L., Bruno, C., Hadjigeorgiou, G. M., Haller, R., Laforêt, P., Lucía, A., Martín, M. A., Martinuzzi, A., Navarro, C., Oflazer, P., Pouget, J., Quinlivan, R., Sacconi, S., Scalco, R. S., Toscano, A., Vissing, J., Vorgerd, M., Wakelin, A., Martí, R. & 14 others, , 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 187.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforêt, P., San-Millán, B., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B. & 7 others, , 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci, G., Monforte, M., Diaz-Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J. & 3 others, , 2020, In: European Journal of Neurology. 27, 12, p. 2604-2615 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance
Leermakers, P. A., Dybdahl, K. L. T., Husted, K. S., Riisager, A., de Paoli, F. V., Pinós, T., Vissing, John, Krag, T. O. B. & Pedersen, T. H., 2020, In: Frontiers in Neurology. 11, 541.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases
Vissing, John, 2020, In: Current Opinion in Neurology. 33, 5, p. 587-589 3 p.Research output: Contribution to journal › Editorial › Research › peer-review
- Published
Effect of aerobic exercise training and deconditioning on oxidative capacity and muscle mitochondrial enzyme machinery in young and elderly individuals
Fritzen, Andreas Mæchel, Andersen, S. P., Qadri, K. A. N., Thøgersen, Frank Dyrehauge, Krag, T., Ørngreen, M. C., Vissing, John & Jeppesen, T. D., 2020, In: Journal of Clinical Medicine. 9, 10, 15 p., 3113.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy
Dahlqvist, J. R., Poulsen, N. S., Østergaard, S. T., Fornander, F., de Stricker Borch, J., Danielsen, E. R., Thomsen, C. & Vissing, John, 2020, In: Neurology. 95, 9, p. e1211-e1221Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy, L. B., Schreiber-Katz, O., Rafferty, K., Robertson, A., Topf, A., Willis, T. A., Heidemann, M., Thiele, S., Bindoff, L., Laurent, J. P., Lochmüller, H., Mathews, K., Mitchell, C., Stevenson, J. H., Vissing, John, Woods, L., Walter, M. C. & Straub, V., 2020, In: Annals of Clinical and Translational Neurology. 7, 5, p. 757-766Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic
Jacob, S., Muppidi, S., Guidon, A., Guptill, J., Hehir, M., Howard, J. F., Illa, I., Mantegazza, R., Murai, H., Utsugisawa, K., Vissing, John, Wiendl, H. & Nowak, R. J., 2020, In: Journal of the Neurological Sciences. 412, 116803.Research 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
Published -
185
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Aerobic Training in Patients with Congenital Myopathy
Research output: Contribution to journal › Journal article › Research › peer-review
Published