Search Results - "Preisler, N."

PGM1 deficiency: substrate use during exercise and effect of treatment with galactose by Voermans, N.C, Preisler, N, Madsen, K.L, Janssen, M.C.H, Kusters, B, Abu Bakar, N, Conte, F, Lamberti, V.M.L, Nusman, F, van Engelen, B.G, van Scherpenzeel, M, Vissing, J, Lefeber, D.J

“…Highlights • PGM1 deficiency is associated with severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity. • Oral galactose…”
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Screening for late‐onset Pompe disease in western Denmark by Hansen, J. S., Pedersen, E. G., Gaist, D., Bach, F. W., Vilholm, O. J., Sandal, B., Weitemeyer, L., Nielsen, K., Schlesinger, F. E., Preisler, N., Vissing, J., Andersen, H.

“…Objective Late‐onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme…”
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Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? by PREISLER, N, ORNGREEN, M. C, ECHANIZ-LAGUNA, A, LAFORET, P, LONSDORFER-WOLF, E, DOUTRELEAU, S, GENY, B, AKMAN, H. O, DIMAURO, S, VISSING, J

“…To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen…”
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Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease) by PREISLER, N, ANDERSEN, G, THOGERSEN, F, CRONE, C, JEPPESEN, T. D, WIBRAND, F, VISSING, J

“…We examined the effect of aerobic exercise in patients with spinal and bulbar muscular atrophy (SBMA). SBMA is caused by a defect androgen receptor. This…”
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Reduced fatty acid oxidation capacity during exercise in patients with carnitine transporter deficiency by Madsen, K, Preisler, N, Rasmussen, J, Petersen, G, Olesen, J, Lund, A, Vissing, J

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Patients With Medium-Chain Acyl–Coenzyme A Dehydrogenase Deficiency Have Impaired Oxidation of Fat During Exercise but No Effect of l-Carnitine Supplementation by Madsen, K. L, Preisler, N, Orngreen, M. C, Andersen, S. P, Olesen, J. H, Lund, A. M, Vissing, J

“…Background: It is not clear to what extent skeletal muscle is affected in patients with medium-chain acyl–coenzyme A dehydrogenase deficiency (MCADD)…”
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Aerobic training in persons who have recovered from juvenile dermatomyositis by Riisager, M, Mathiesen, P.R, Vissing, J, Preisler, N, Ørngreen, M.C

“…Abstract A recent study has shown that 36 persons who had recovered from juvenile dermatomyositis (JDM) have on average an 18% decrease in maximal oxygen…”
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Fat metabolism during exercise in patients with McArdle disease by ORNGREEN, M. C, JEPPESEN, T. D, TVEDE ANDERSEN, S, TAIVASSALO, T, HAUERSLEV, S, PREISLER, N, HALLER, R. G, VAN HALL, G, VISSING, J

“…It is known that muscle phosphorylase deficiency restricts carbohydrate utilization, but the implications for muscle fat metabolism have not been studied. We…”
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PGM1 deficiency – A heterogeneous myopathy with opportunities for treatment by Voermans, N, Preisler, N, Madsen, K, Janssen, M, Kusters, B, Maas, D, Groothuis, J, Vissing, J, van Engelen, B, Lefeber, D

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T.P.47 Bezafibrate does not improve fat oxidation in patients with disorders of fat metabolism; a double blind, randomized clinical trial by Ørngreen, M.C, Madsen, K.L, Preisler, N, Andersen, G, Vissing, J, Laforêt, P

“…Abstract Bezafibrate up-regulate enzyme activities of carnitine palmitoyltransferase (CPT) II and very long-chain acyl-CoA-dehydrogenase (VLCAD) in patients…”
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G.P.114 Exercise intolerance in Debrancher deficiency is caused by a block in skeletal muscle and liver glycogen breakdown by Prahm, K.P, Preisler, N, Madsen, K.L, Husu, E, Pradel, A, Mollet, A, Labrune, P, Petit, F, Hogrel, J.Y, Jardel, C, Maillot, F, Vissing, J, Laforet, P

“…Abstract Debrancher deficiency is an inborn error of glycogen metabolism. Glycogen is an essential energy source for skeletal muscle during exercise and it is…”
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P5.47 No second wind phenomenon, but glucose improves exercise capacity in Phosphoglucomutase deficiency by Preisler, N, Orngreen, M.C, Laforet, P, Echaniz-Laguna, A, Lonsdorfer-Wolf, E, Doutreleau, S, Geny, B, Vissing, J

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P4.42 Muscle protein synthesis in patients with Dystrophia Myotonica type 1 by Ørngreen, M.C, Andersen, G, Preisler, N, Jeppesen, T.D, van Hall, G, Vissing, J

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P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy by Husu, E.H, Preisler, N, Madsen, K, Hansen, R, Lukacs, Z, Laub, M, Dunoe, M, Andersen, H, Vinge, L, Vissing, J

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20O Preliminary results from a phase 1-2 gene therapy study of ATA-100, AAV9 vector encoding FKRP, in patients with limb girdle muscular dystrophy R9 by Olivier, S., Richard, I., Stojkovic, T., Straub, V., Preisler, N., Zanfongnon, R., Buscara, L., Genries-Ferrand, S., Vissing, J.

“…ATA-001-FKRP (NCT05224505) is an open-label multicenter study consisting of 2 parts: a dose-escalation and a pivotal randomized placebo-controlled phase. All…”
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G.P.14.06 There is no correlation between muscle strength and myotonia in patients with myotonic dystrophy type 1 by Preisler, N, Cathrine Orngreen, M, Andersen, G, Dysgaard Jeppesen, T, Colding-Jorgensen, E, Clausen, T, Schwartz, M, Duno, M, Vissing, J

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Safety and efficacy of tenecteplase in patients with wake-up stroke assessed by non-contrast CT (TWIST): a multicentre, open-label, randomised controlled trial by Jatužis, Dalius, Karelis, Guntis, Putaala, Jukka, Mazya, Michael V, Werring, David J, Robinson, Thompson G, Valente, M, Chen, A, Christensen, L, Wassvik, L, Folke, M, Rosenbaum, S, Preisler, N, Herodes, M, Saarinen, J, Tiainen, M, Tumpula, O, Haritoncenko, I, Sipilä, J, Viesulaite, B, Rastenyte, D, Masiliunas, R, Chmeliauskas, P, Lukosaitis, V, Reichenbach, A, Nordby, L M, Nes, M, Horn, J W, Myrstad, C, Tunvold, J-A, Malmberg, V N, Ellekjær, H, Berg, H H, Tronvik, E, Solhoff, R, Fjeldstad, M S, Matapour, S, Johannessen, C, Mathisen, I, Aakvik, K, Stokmo, T, Helander, C, Solberg, T O, Maini, S, Laska, A-C, Rudberg, A-S, Ericsson, A, Wickberg, O, Jood, K, Mansson, K, Fasth, O, Hedström, B, Hannon, N, McGee, J, Robinson, M, Halse, O, Wilding, P, Chatterjee, K, Martin, M, Leason, S, Aissa, M, Papavasileiou, V, Waugh, D, Manning, L, Asaipillai, A, Chenna, S, Karunatilake, D, Foot, J, Wilkes, G, Jackson, B, Carpenter, M, Jackson, L, Needle, A, Northcott, K, Keenan, S, Mackle, D, Rushton, B, Evans, R, Ferdinand, P, Fawcett, M, Giraldo, L, Byers, J, Lee, S, Ghatala, R, Sim, C H, Ghani, U, Willmot, M, Ahlquist, K, Bates, M, Rashed, K, Board, S, Andsberg, G, Sundayi, S, Garside, M, Manoj, A, Cederin, B, Toomsoo, T, Gross-Paju, K, Ottesen, V, Parsons, M

“…Current evidence supports the use of intravenous thrombolysis with alteplase in patients with wake-up stroke selected with MRI or perfusion imaging and is…”
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High-Impedance, Broadband and Compact RMS Detectors for On-Chip Measurements of Millimeter Wave Voltages for Built-In Self-Testing and Debugging by Kshattry, S., Yu, C.-K., Wu, C.-L., Yun, Y., Lee, C., Cha, C.-Y., Choi, W.-Y., Preisler, N., O, K. K.

“…The high testing cost and challenges of debugging millimeter-wave (mm-wave) CMOS integrated circuits are ameliorated by integrating high-impedance broadband…”
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P283 Natural history of limb girdle muscular dystrophy R9: one-year follow-up of a European cohort by Vissing, J., Stojkovic, T., Straub, V., Preisler, N., Holm-Yildiz, S., Rudolf, K., Querin, G., Hogrel, J., Birnbaum, S., James, M., Ghimenton, E., Verma, M., Richard, I., Granier, M., Degove, S., Olivier, S.

“…FKRP-related LGMDR9 (old nomenclature; LGMD2I), is an autosomal recessive limb-girdle muscular dystrophy, characterized by progressive weakness of…”
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G.P.56 - Reduced fatty acid oxidation capacity during exercise in patients with carnitine transporter deficiency by Madsen, K., Preisler, N., Rasmussen, J., Petersen, G., Olesen, J., Lund, A., Vissing, J.

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