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Page 1
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 GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: storgaard jh. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. Brain. 2020. PMID: 32875335
Impaired lipolysis in propionic acidemia: A new metabolic myopathy?
Storgaard JH, Madsen KL, Løkken N, Vissing J, van Hall G, Lund AM, Ørngreen MC. Storgaard JH, et al. JIMD Rep. 2020 Mar 31;53(1):16-21. doi: 10.1002/jmd2.12113. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395405 Free PMC article.
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study.
Løkken N, Storgaard JH, Revsbech KL, Voermans NC, Van Hall G, Vissing J, Ørngreen MC. Løkken N, et al. Among authors: storgaard jh. J Inherit Metab Dis. 2022 May;45(3):502-516. doi: 10.1002/jimd.12484. Epub 2022 Feb 20. J Inherit Metab Dis. 2022. PMID: 35150142 Free PMC article. Clinical Trial.
No effect of triheptanoin in patients with phosphofructokinase deficiency.
Raaschou-Pedersen DE, Madsen KL, Løkken N, Storgaard JH, Quinlivan R, Laforêt P, Lund A, Van Hall G, Vissing J, Ørngreen M. Raaschou-Pedersen DE, et al. Among authors: storgaard jh. Neuromuscul Disord. 2022 Apr;32(4):295-304. doi: 10.1016/j.nmd.2022.01.012. Epub 2022 Feb 4. Neuromuscul Disord. 2022. PMID: 35241345 Free article. Clinical Trial.