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Page 1
Exercise and Preexercise Nutrition as Treatment for McArdle Disease.
Nogales-Gadea G, Santalla A, Ballester-Lopez A, Arenas J, Martín MA, Godfrey R, Pinós T, Pintos-Morell G, Coll-Cantí J, Lucia A. Nogales-Gadea G, et al. Med Sci Sports Exerc. 2016 Apr;48(4):673-9. doi: 10.1249/MSS.0000000000000812. Med Sci Sports Exerc. 2016. PMID: 26559449 Review.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Núñez-Manchón J, et al. J Inherit Metab Dis. 2018 Nov;41(6):1027-1035. doi: 10.1007/s10545-018-0203-2. Epub 2018 Jun 20. J Inherit Metab Dis. 2018. PMID: 29926259
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
Genes and exercise intolerance: insights from McArdle disease.
Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A. Nogales-Gadea G, et al. Physiol Genomics. 2016 Feb;48(2):93-100. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13. Physiol Genomics. 2016. PMID: 26465709 Review.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA. Garcia-Consuegra I, et al. Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913921 Free article.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Santalla A, et al. BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2. BMC Genomics. 2017. PMID: 29143597 Free PMC article.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Núñez-Manchón J, et al. J Inherit Metab Dis. 2018 Nov;41(6):1295. doi: 10.1007/s10545-018-0236-6. J Inherit Metab Dis. 2018. PMID: 30030676
Myotilinopathy unmasked by statin treatment: A case report.
Ramos-Fransi A, Martínez-Piñeiro A, Almendrote M, Lucente G, Carrato C, Ballester-Lopez A, Lucia A, Pintos-Morell G, Nogales-Gadea G, Coll-Cantí J. Ramos-Fransi A, et al. Muscle Nerve. 2018 Jun;57(6):E138-E140. doi: 10.1002/mus.26078. Epub 2018 Feb 2. Muscle Nerve. 2018. PMID: 29350769 No abstract available.
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Ballester-Lopez A, Koehorst E, Linares-Pardo I, Núñez-Manchón J, Almendrote M, Lucente G, Arbex A, Puente C, Lucia A, Monckton DG, Cumming SA, Pintos-Morell G, Coll-Cantí J, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G. Ballester-Lopez A, et al. Among authors: coll canti j. Genes (Basel). 2020 Nov 7;11(11):1321. doi: 10.3390/genes11111321. Genes (Basel). 2020. PMID: 33171734 Free PMC article.
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.
Koehorst E, Núñez-Manchón J, Ballester-López A, Almendrote M, Lucente G, Arbex A, Chojnacki J, Vázquez-Manrique RP, Gómez-Escribano AP, Pintos-Morell G, Coll-Cantí J, Ramos-Fransi A, Martínez-Piñeiro A, Suelves M, Nogales-Gadea G. Koehorst E, et al. Among authors: coll canti j. J Clin Med. 2021 Nov 25;10(23):5520. doi: 10.3390/jcm10235520. J Clin Med. 2021. PMID: 34884222 Free PMC article.
38 results