John Vissing
Clinical Professor
- 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 New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans
Krag, T. O. & Vissing, John, Dec 2015, In: Journal of Neuropathology and Experimental Neurology. 74, 12, p. 1137-46 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging
Anvar, S. Y., Raz, Y., Verway, N., van der Sluijs, B., Venema, A., Goeman, J. J., Vissing, John, van der Maarel, S. M., 't Hoen, P. A. C., van Engelen, B. G. M. & Raz, V., 2013, In: Aging. 5, 6, p. 412-26 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Vissing, John, Barresi, R., Witting, N., Van Ghelue, M., Gammelgaard, L., Bindoff, L. A., Straub, V., Lochmüller, H., Hudson, J., Arnardottir, S., Dahlbom, K., Jonsrud, C. & Duno, M., 30 Apr 2016, In: Brain. 139, 8, p. 2154-2163 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood
Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy
Riisager, M., Duno, M., Hansen, F. J., Krag, T. O., Vissing, C. R. & Vissing, John, 2013, In: Neuromuscular Disorders. 23, 7, p. 562-567 6 p.Research output: Contribution to journal › Letter › Research › peer-review
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A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy
Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Rafiq, J., Krag, T., Jakobsen, J., Andersen, H. & Vissing, John, Feb 2014, In: Neuromuscular Disorders. 24, 2, p. 162-166 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A pilot study of muscle plasma protein changes after exercise
Dahlqvist, J. R., Voss, L. G., Lauridsen, T., Krag, T. O. & Vissing, John, Feb 2014, In: Muscle & Nerve. 49, 2, p. 261-266 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A quantitative method to assess muscle edema using short TI inversion recovery MRI
Dahlqvist, J. R., Salim, R., Thomsen, C. & Vissing, John, 1 Dec 2020, In: Scientific Reports. 10, 1, 7 p., 7246 .Research 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
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
Published