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Year Number of Results
2006 1
2015 2
2016 4
2017 2
2018 6
2019 4
2020 4
2021 2
2024 0

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22 results

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Page 1
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.
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.
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.
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.
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
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J. Fernández-Simón E, et al. Among authors: coll canti j. Mol Genet Metab. 2019 Sep-Oct;128(1-2):129-136. doi: 10.1016/j.ymgme.2019.07.013. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31378569 Clinical Trial.
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Carrasco-Rozas A, Fernández-Simón E, Lleixà MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nuñez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Díaz-Manera J, Gallardo E. Carrasco-Rozas A, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12. Ann Clin Transl Neurol. 2019. PMID: 31353854 Free PMC article. Clinical Trial.
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
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.
22 results