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Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
Analysis of serum miRNA profiles of myasthenia gravis patients.
Nogales-Gadea G, Ramos-Fransi A, Suárez-Calvet X, Navas M, Rojas-García R, Mosquera JL, Díaz-Manera J, Querol L, Gallardo E, Illa I. Nogales-Gadea G, et al. PLoS One. 2014 Mar 17;9(3):e91927. doi: 10.1371/journal.pone.0091927. eCollection 2014. PLoS One. 2014. PMID: 24637658 Free PMC article.
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.
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
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
A novel mutation in the valosin-containing-protein gene found in a Spanish family.
Lucente G, Almendrote M, Ramos-Fransi A, Martínez-Piñeiro A, Camaño P, Ballester-Lopez A, Lucia A, Carrato C, Nogales-Gadea G, Coll-Cantí J. Lucente G, et al. J Neurol Sci. 2018 Aug 15;391:112-113. doi: 10.1016/j.jns.2018.06.010. Epub 2018 Jun 13. J Neurol Sci. 2018. PMID: 30103957 No abstract available.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
25 results