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The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Genes (Basel). 2020 Jul 7;11(7):757. doi: 10.3390/genes11070757.
Genes (Basel). 2020.
PMID: 32645888
Free PMC article.
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. Among authors: linares pardo i.
Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4.
Hum Mutat. 2020.
PMID: 31608518
Free article.
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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. Among authors: linares pardo i.
Neurol Genet. 2020 Jul 21;6(4):e484. doi: 10.1212/NXG.0000000000000484. eCollection 2020 Aug.
Neurol Genet. 2020.
PMID: 32802949
Free PMC article.
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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: linares pardo i.
Genes (Basel). 2020 Nov 7;11(11):1321. doi: 10.3390/genes11111321.
Genes (Basel). 2020.
PMID: 33171734
Free PMC article.
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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. Among authors: linares pardo i.
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
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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: linares pardo i.
Biomedicines. 2022 Jun 10;10(6):1372. doi: 10.3390/biomedicines10061372.
Biomedicines. 2022.
PMID: 35740394
Free PMC article.
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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. Among authors: linares pardo i.
J Inherit Metab Dis. 2018 Nov;41(6):1295. doi: 10.1007/s10545-018-0236-6.
J Inherit Metab Dis. 2018.
PMID: 30030676
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