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Differential glucose metabolism in mice and humans affected by McArdle disease.
Krag TO, Pinós T, Nielsen TL, Duran J, García-Rocha M, Andreu AL, Vissing J. Krag TO, et al. Among authors: pinos t. Am J Physiol Regul Integr Comp Physiol. 2016 Aug 1;311(2):R307-14. doi: 10.1152/ajpregu.00489.2015. Epub 2016 Jun 8. Am J Physiol Regul Integr Comp Physiol. 2016. PMID: 27280431 Free article.
211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.
Quinlivan R, Andreu AL, Marti R; Workshop Participants. Quinlivan R, et al. Neuromuscul Disord. 2017 Dec;27(12):1143-1151. doi: 10.1016/j.nmd.2017.09.002. Epub 2017 Sep 14. Neuromuscul Disord. 2017. PMID: 29079393 No abstract available.
Absence of p.R50X Pygm read-through in McArdle disease cellular models.
Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T. Tarrasó G, et al. Among authors: pinos t. Dis Model Mech. 2020 Jan 13;13(1):dmm043281. doi: 10.1242/dmm.043281. Dis Model Mech. 2020. PMID: 31848135 Free PMC article.
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMAC Consortium. Pinós T, et al. Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z. Orphanet J Rare Dis. 2020. PMID: 33054807 Free PMC article.
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg CV, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J; EUROMAC Consortium. Scalco RS, et al. Among authors: pinos t. Orphanet J Rare Dis. 2020 Nov 24;15(1):330. doi: 10.1186/s13023-020-01562-x. Orphanet J Rare Dis. 2020. PMID: 33234167 Free PMC article.
74 results