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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. Among authors: desviat lr. EMBO Mol Med. 2017 May;9(5):545-557. doi: 10.15252/emmm.201607199. EMBO Mol Med. 2017. PMID: 28289078 Free PMC article. Review.
Delivery of oligonucleotide-based therapeutics: challenges and opportunities.
Hammond SM, Aartsma-Rus A, Alves S, Borgos SE, Buijsen RAM, Collin RWJ, Covello G, Denti MA, Desviat LR, Echevarría L, Foged C, Gaina G, Garanto A, Goyenvalle AT, Guzowska M, Holodnuka I, Jones DR, Krause S, Lehto T, Montolio M, Van Roon-Mom W, Arechavala-Gomeza V. Hammond SM, et al. Among authors: desviat lr. EMBO Mol Med. 2021 Apr 9;13(4):e13243. doi: 10.15252/emmm.202013243. Epub 2021 Apr 6. EMBO Mol Med. 2021. PMID: 33821570 Free PMC article. Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
RNA solutions to treat inborn errors of metabolism.
Martinez-Pizarro A, Desviat LR. Martinez-Pizarro A, et al. Among authors: desviat lr. Mol Genet Metab. 2022 Aug;136(4):289-295. doi: 10.1016/j.ymgme.2022.07.006. Epub 2022 Jul 8. Mol Genet Metab. 2022. PMID: 35849888 Free PMC article. Review.
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: desviat lr. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806 Free article.
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