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Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA. García-Consuegra I, et al. Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26. Hum Mutat. 2018. PMID: 30011114
Molecular genetics of McArdle's disease.
Nogales-Gadea G, Arenas J, Andreu AL. Nogales-Gadea G, et al. Curr Neurol Neurosci Rep. 2007 Jan;7(1):84-92. doi: 10.1007/s11910-007-0026-2. Curr Neurol Neurosci Rep. 2007. PMID: 17217859 Review.
Favorable responses to acute and chronic exercise in McArdle patients.
Maté-Muñoz JL, Moran M, Pérez M, Chamorro-Viña C, Gómez-Gallego F, Santiago C, Chicharro L, Foster C, Nogales-Gadea G, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A. Maté-Muñoz JL, et al. Clin J Sport Med. 2007 Jul;17(4):297-303. doi: 10.1097/JSM.0b013e3180f6168c. Clin J Sport Med. 2007. PMID: 17620784
McArdle disease: molecular genetic update.
Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. Andreu AL, et al. Acta Myol. 2007 Jul;26(1):53-7. Acta Myol. 2007. PMID: 17915571 Free PMC article. Review.
McArdle disease: what do neurologists need to know?
Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J. Lucia A, et al. Nat Clin Pract Neurol. 2008 Oct;4(10):568-77. doi: 10.1038/ncpneuro0913. Nat Clin Pract Neurol. 2008. PMID: 18833216 Review.
74 results