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Page 1
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: coll canti j. Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4. Hum Mutat. 2020. PMID: 31608518 Free article.
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
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. Among authors: coll canti j. Genes (Basel). 2020 Jul 7;11(7):757. doi: 10.3390/genes11070757. Genes (Basel). 2020. PMID: 32645888 Free PMC article.
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.
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
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. Among authors: coll canti j. 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.
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: coll canti j. Neurol Genet. 2020 Jul 21;6(4):e484. doi: 10.1212/NXG.0000000000000484. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32802949 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.
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.
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
38 results