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An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.
Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento A, Ortez C, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G, Suelves M. Koehorst E, et al. Among authors: martinez pineiro a. Biomedicines. 2022 Jun 10;10(6):1372. doi: 10.3390/biomedicines10061372. Biomedicines. 2022. PMID: 35740394 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.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G. Ballester-Lopez A, et al. Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4. Hum Mutat. 2020. PMID: 31608518
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.
Cortés-Vicente E, Álvarez-Velasco R, Segovia S, Paradas C, Casasnovas C, Guerrero-Sola A, Pardo J, Ramos-Fransi A, Sevilla T, López de Munain A, Gómez MT, Jericó I, Gutiérrez-Gutiérrez G, Pelayo-Negro AL, Martín MA, Mendoza MD, Morís G, Rojas-Garcia R, Díaz-Manera J, Querol L, Gallardo E, Vélez B, Albertí MA, Galán L, García-Sobrino T, Martínez-Piñeiro A, Lozano-Veintimilla A, Fernández-Torrón R, Cano-Abascal Á, Illa I. Cortés-Vicente E, et al. Neurology. 2020 Mar 17;94(11):e1171-e1180. doi: 10.1212/WNL.0000000000008903. Epub 2020 Feb 18. Neurology. 2020. PMID: 32071167 Free PMC article.
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Ballester-Lopez A, Linares-Pardo I, Koehorst E, Núñez-Manchón J, Pintos-Morell G, Coll-Cantí J, Almendrote M, Lucente G, Arbex A, Magaña JJ, Murillo-Melo NM, Lucia A, Monckton DG, Cumming SA, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G. Ballester-Lopez A, et al. Genes (Basel). 2020 Jul 7;11(7):757. doi: 10.3390/genes11070757. Genes (Basel). 2020. PMID: 32645888 Free PMC article.
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.
Ballester-Lopez A, Núñez-Manchón J, Koehorst E, Linares-Pardo I, Almendrote M, Lucente G, Guanyabens N, Lopez-Osias M, Suárez-Mesa A, Hanick SA, Chojnacki J, Lucia A, Pintos-Morell G, Coll-Cantí J, Martínez-Piñeiro A, Ramos-Fransi A, Nogales-Gadea G. Ballester-Lopez A, et al. Neurol Genet. 2020 Jul 21;6(4):e484. doi: 10.1212/NXG.0000000000000484. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32802949 Free PMC article.
38 results