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Items: 1 to 20 of 27

1.

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

Madsen KL, Preisler N, Buch AE, Stemmerik MG, Laforêt P, Vissing J.

JIMD Rep. 2019 Mar 14;46(1):79-84. doi: 10.1002/jmd2.12024. eCollection 2019 Mar.

2.

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.

Madsen KL, Preisler N, Rasmussen J, Hedermann G, Olesen JH, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4580-4588. doi: 10.1210/jc.2018-00953.

PMID:
30219858
3.

Exercise in muscle disorders: what is our current state?

Preisler N, Orngreen MC.

Curr Opin Neurol. 2018 Oct;31(5):610-617. doi: 10.1097/WCO.0000000000000597. Review.

PMID:
30036194
4.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG.

Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25.

PMID:
28882528
5.

Screening for late-onset Pompe disease in western Denmark.

Hansen JS, Pedersen EG, Gaist D, Bach FW, Vilholm OJ, Sandal B, Weitemeyer L, Nielsen K, Schlesinger FE, Preisler N, Vissing J, Andersen H.

Acta Neurol Scand. 2018 Jan;137(1):85-90. doi: 10.1111/ane.12811. Epub 2017 Aug 22.

PMID:
28832912
6.

Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Preisler N, Laforêt P, Madsen KL, Husu E, Vissing CR, Hedermann G, Galbo H, Lindberg C, Vissing J.

Endocr Connect. 2017 Aug;6(6):384-394. doi: 10.1530/EC-17-0042. Epub 2017 May 10.

7.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium.

Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Review.

PMID:
28477382
8.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Voermans NC, Preisler N, Madsen KL, Janssen MC, Kusters B, Abu Bakar N, Conte F, Lamberti VM, Nusman F, van Engelen BG, van Scherpenzeel M, Vissing J, Lefeber DJ.

Neuromuscul Disord. 2017 Apr;27(4):370-376. doi: 10.1016/j.nmd.2017.01.014. Epub 2017 Jan 19.

PMID:
28190645
9.

Aerobic Training in Patients with Congenital Myopathy.

Hedermann G, Vissing CR, Heje K, Preisler N, Witting N, Vissing J.

PLoS One. 2016 Jan 11;11(1):e0146036. doi: 10.1371/journal.pone.0146036. eCollection 2016.

10.

Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease).

Ørngreen MC, Jeppesen TD, Taivassalo T, Hauerslev S, Preisler N, Heinicke K, Haller RG, Vissing J, van Hall G.

J Clin Endocrinol Metab. 2015 Aug;100(8):E1096-104. doi: 10.1210/jc.2015-1339. Epub 2015 Jun 1.

PMID:
26030324
11.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J.

Neurology. 2015 Apr 28;84(17):1767-71. doi: 10.1212/WNL.0000000000001518. Epub 2015 Apr 1.

PMID:
25832663
12.

Training improves oxidative capacity, but not function, in spinal muscular atrophy type III.

Madsen KL, Hansen RS, Preisler N, Thøgersen F, Berthelsen MP, Vissing J.

Muscle Nerve. 2015 Aug;52(2):240-4. doi: 10.1002/mus.24527. Epub 2015 May 23.

PMID:
25418505
13.

Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study.

Andersen G, Ørngreen MC, Preisler N, Jeppesen TD, Krag TO, Hauerslev S, van Hall G, Vissing J.

Am J Physiol Regul Integr Comp Physiol. 2015 Jan 15;308(2):R123-30. doi: 10.1152/ajpregu.00321.2014. Epub 2014 Nov 19.

14.

Exercise in muscle glycogen storage diseases.

Preisler N, Haller RG, Vissing J.

J Inherit Metab Dis. 2015 May;38(3):551-63. doi: 10.1007/s10545-014-9771-y. Epub 2014 Oct 18. Review.

PMID:
25326273
15.

Aerobic training in patients with anoctamin 5 myopathy and hyperckemia.

Vissing CR, Preisler N, Husu E, Prahm KP, Vissing J.

Muscle Nerve. 2014 Jul;50(1):119-23. doi: 10.1002/mus.24112. Epub 2014 May 5.

PMID:
24639367
16.

Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial.

Ørngreen MC, Madsen KL, Preisler N, Andersen G, Vissing J, Laforêt P.

Neurology. 2014 Feb 18;82(7):607-13. doi: 10.1212/WNL.0000000000000118. Epub 2014 Jan 22.

17.

Aerobic training in persons who have recovered from juvenile dermatomyositis.

Riisager M, Mathiesen PR, Vissing J, Preisler N, Ørngreen MC.

Neuromuscul Disord. 2013 Dec;23(12):962-8. doi: 10.1016/j.nmd.2013.09.002. Epub 2013 Sep 12.

PMID:
24120572
18.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.

Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.

PMID:
24011652
19.

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

Preisler N, Laforêt P, Echaniz-Laguna A, Ørngreen MC, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Stojkovic T, Piraud M, Petit FM, Vissing J.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1235-40. doi: 10.1210/jc.2013-1651. Epub 2013 Jun 18.

PMID:
23780368
20.

Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P.

Mol Genet Metab. 2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.

PMID:
23507172

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