John Vissing
Clinical Professor
- 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
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
Published -
225
downloads
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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185
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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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