John Vissing
Clinical Professor
- 2021
- Published
Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T. & Vissing, John, 2021, In: Human Mutation. 42, 9, p. 1101-1106Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease: an MRI study
Vaeggemose, M., Mencagli, R. A., Hansen, J. S., Dräger, B., Ringgaard, S., Vissing, John & Andersen, H., 2021, In: PeerJ. 9, p. 1-19 e10928.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era
Walter, M. C., Chiriboga, C., Duong, T., Goemans, N., Mayhew, A., Ouillade, L., Oskoui, M., Quinlivan, R., Vázquez-Costa, J. F., Vissing, John & Servais, L., 2021, In: Journal of Neuromuscular Diseases. 8, 4, p. 543-551 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies
Werlauff, U., Hansen, P. D., Witting, N. & Vissing, John, 2021, In: Journal of Neuromuscular Diseases. 8, 4, p. 647-655 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models
Almodóvar-Payá, A., Villarreal-Salazar, M., Luna, N. D., Nogales-Gadea, G., Real-Martínez, A., Andreu, A. L., Martín, M. A., Arenas, J., Lucia, A., Vissing, John, Krag, T. & Pinós, T., 2020, In: International Journal of Molecular Sciences. 21, 24, 50 p., 9621.Research output: Contribution to journal › Review › 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
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
Phenotypic spectrum of α-dystroglycanopathies associated with the c.919t>a variant in the FKRP gene in humans and mice
Brown, S. C., Fernandez-Fuente, M., Muntoni, F. & Vissing, John, 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 12, p. 1257-1264 8 p.Research output: Contribution to journal › Review › Research › peer-review
- 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
ID: 915367
Most downloads
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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
Published -
225
downloads
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