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COST Actions: fostering collaborative research for rare diseases.
Desviat LR, Mallebrera CJ, Vallejo-Illarramendi A, Mayán MD, Nogales-Gadea G, Arechavala-Gomeza V. Desviat LR, et al. Lancet Neurol. 2019 Nov;18(11):989-991. doi: 10.1016/S1474-4422(19)30366-7. Lancet Neurol. 2019. PMID: 31609208 No abstract available.
Delivery is key: lessons learnt from developing splice-switching antisense therapies.
Godfrey C, Desviat LR, Smedsrød B, Piétri-Rouxel F, Denti MA, Disterer P, Lorain S, Nogales-Gadea G, Sardone V, Anwar R, El Andaloussi S, Lehto T, Khoo B, Brolin C, van Roon-Mom WM, Goyenvalle A, Aartsma-Rus A, Arechavala-Gomeza V. Godfrey C, et al. EMBO Mol Med. 2017 May;9(5):545-557. doi: 10.15252/emmm.201607199. EMBO Mol Med. 2017. PMID: 28289078 Free PMC article. Review.
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I.
Koehorst E, Ballester-Lopez A, Arechavala-Gomeza V, Martínez-Piñeiro A, Nogales-Gadea G. Koehorst E, et al. J Clin Med. 2020 Dec 4;9(12):3939. doi: 10.3390/jcm9123939. J Clin Med. 2020. PMID: 33291833 Free PMC article. Review.
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.
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.
74 results