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Year Number of Results
2014 1
2016 2
2017 1
2019 1
2020 3
2022 0
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Page 1
RNA Therapeutics: How Far Have We Gone?
Coutinho MF, Matos L, Santos JI, Alves S. Coutinho MF, et al. Among authors: santos ji. Adv Exp Med Biol. 2019;1157:133-177. doi: 10.1007/978-3-030-19966-1_7. Adv Exp Med Biol. 2019. PMID: 31342441 Review.
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: santos ji. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.