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Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.
Schuh RS, Gonzalez EA, Tavares AMV, Seolin BG, Elias LS, Vera LNP, Kubaski F, Poletto E, Giugliani R, Teixeira HF, Matte U, Baldo G. Schuh RS, et al. Among authors: kubaski f. Gene Ther. 2020 Feb;27(1-2):74-84. doi: 10.1038/s41434-019-0113-4. Epub 2019 Dec 11. Gene Ther. 2020. PMID: 31827259
Therapies for the bone in mucopolysaccharidoses.
Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T. Tomatsu S, et al. Among authors: kubaski f. Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9. Mol Genet Metab. 2015. PMID: 25537451 Free PMC article. Review.
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T. Tomatsu S, et al. Among authors: kubaski f. Drug Des Devel Ther. 2015 Apr 1;9:1937-53. doi: 10.2147/DDDT.S68562. eCollection 2015. Drug Des Devel Ther. 2015. PMID: 25897204 Free PMC article. Review.
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.
Kubaski F, Yabe H, Suzuki Y, Seto T, Hamazaki T, Mason RW, Xie L, Onsten TGH, Leistner-Segal S, Giugliani R, Dũng VC, Ngoc CTB, Yamaguchi S, Montaño AM, Orii KE, Fukao T, Shintaku H, Orii T, Tomatsu S. Kubaski F, et al. Biol Blood Marrow Transplant. 2017 Oct;23(10):1795-1803. doi: 10.1016/j.bbmt.2017.06.020. Epub 2017 Jul 1. Biol Blood Marrow Transplant. 2017. PMID: 28673849 Free PMC article.
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: kubaski f. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
Lysosomal diseases: Overview on current diagnosis and treatment.
Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Poswar FO, et al. Among authors: kubaski f. Genet Mol Biol. 2019;42(1 suppl 1):165-177. doi: 10.1590/1678-4685-GMB-2018-0159. Epub 2019 Apr 25. Genet Mol Biol. 2019. PMID: 31067291 Free PMC article.
Mucopolysaccharidosis Type I.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Kubaski F, et al. Diagnostics (Basel). 2020 Mar 16;10(3):161. doi: 10.3390/diagnostics10030161. Diagnostics (Basel). 2020. PMID: 32188113 Free PMC article. Review.
68 results