Mads Peter Godtfeldt Stemmerik

2024

Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita

Jacobsen, L. N., Stemmerik, M. G., Skriver, S. V., Pedersen, J. J., Løkken, N. & Vissing, J., Apr 2024, In: European Journal of Neurology. 31, 4, e16207.

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

Exercise training improves cardiovascular fitness in dilated cardiomyopathy caused by truncating titin variants

Flensted, I. F., Stemmerik, M. G., Skriver, S. V., Axelsen, K. H., Christensen, A. H., Lundby, C., Bundgaard, H., Vissing, J. & Vissing, C. R., 24 Sept 2024, (E-pub ahead of print) In: Heart (British Cardiac Society). heartjnl-2024-323995.

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

2023

Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study

Løkken, N., Nielsen, M. R., Stemmerik, M. G., Ellerton, C., Revsbech, K. L., Macrae, M., Slipsager, A., Krett, B., Beha, G. H., Emanuelsson, F., van Hall, G., Quinlivan, R. & Vissing, J., Nov 2023, In: Clinical nutrition (Edinburgh, Scotland). 42, 11, p. 2124-2137 14 p.

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

3 Citations (Scopus)

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Karazi, W., Scalco, R. S., Stemmerik, M. G., Løkken, N., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Kouwenberg, C. V., Laforêt, P., Millán, B. S., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S. & Durmus, H. & 9 others, Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, J., Voermans, N. C. & EUROMAC Consortium, 25 Jul 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 210.

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

Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders

Pedersen, J. J., Stemmerik, M. G., Jacobsen, L. N., Skriver, S. V., Wilms, G. R., Duno, M. & Vissing, J., 2023, In: Scientific Reports. 13, 1, p. 1-11 11 p., 2538.

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

2021

Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)

Buch, A. E., Musumeci, O., Wigley, R., Stemmerik, M. P. G., Eisum, A.-S. V., Madsen, K. L., Preisler, N., Hilton-Jones, D., Quinlivan, R., Toscano, A. & Vissing, J., Sept 2021, In: JIMD Reports. 61, 1, p. 60-66 7 p.

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

Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T. & Vissing, J., Sept 2021, In: Human Mutation. 42, 9, p. 1101-1106 6 p.

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

3 Citations (Scopus)

2020

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, Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, J. & EUROMAC Consortium, Dec 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330 330.

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

29 Citations (Scopus)

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, J., Jan 2020, In: Mitochondrion. 50, p. 35-41 7 p.

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

37 Citations (Scopus)

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, J. & Quinlivan, R., Sept 2020, In: Neuromuscular disorders : NMD. 30, 9, p. 734-741 8 p.

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

4 Citations (Scopus)

2019

Fat oxidation is impaired during exercise in lipin-1 deficiency

Raaschou-Pedersen, D., Madsen, K. L., Stemmerik, M. G., Eisum, A.-S. V., Straub, V. & Vissing, J., 8 Oct 2019, In: Neurology. 93, 15, p. e1433-e1438

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

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

Madsen, K. L., Stemmerik, M. G., Buch, A. E., Poulsen, N. S., Lund, A. M. & Vissing, J., 1 Sept 2019, In: The Journal of clinical endocrinology and metabolism. 104, 9, p. 3610-3613 4 p.

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

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

Madsen, K. L., Preisler, N., Buch, A. E., Stemmerik, M. G., Laforêt, P. & Vissing, J., Mar 2019, In: JIMD Reports. 46, 1, p. 79-84 6 p.

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

No effect of triheptanoin on exercise performance in McArdle disease

Madsen, K. L., Laforêt, P., Buch, A. E., Stemmerik, M. G., Ottolenghi, C., Hatem, S. N., Raaschou-Pedersen, D. T., Poulsen, N. S., Atencio, M., Luton, M.-P., Ceccaldi, A., Haller, R. G., Quinlivan, R., Mochel, F. & Vissing, J., Oct 2019, In: Annals of Clinical and Translational Neurology. 6, 10, p. 1949-1960 12 p.

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

18 Citations (Scopus)

2017

Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

Stemmerik, M. G., Madsen, K. L., Laforêt, P., Buch, A. E. & Vissing, J., 12 Dec 2017, In: Neurology. 89, 24, p. 2491-2494 4 p.

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

11 Citations (Scopus)

Mads Peter Godtfeldt Stemmerik

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