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Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. De Pace R, et al. Among authors: patten sa. Brain. 2024 May 3;147(5):1751-1767. doi: 10.1093/brain/awad427. Brain. 2024. PMID: 38128568 Free PMC article.
RNA Dysregulation in Amyotrophic Lateral Sclerosis.
Butti Z, Patten SA. Butti Z, et al. Among authors: patten sa. Front Genet. 2019 Jan 22;9:712. doi: 10.3389/fgene.2018.00712. eCollection 2018. Front Genet. 2019. PMID: 30723494 Free PMC article. Review.
Organoruthenium(II) Complexes Bearing an Aromatase Inhibitor: Synthesis, Characterization, in Vitro Biological Activity and in Vivo Toxicity in Zebrafish Embryos.
Golbaghi G, Haghdoost MM, Yancu D, Santos YLL, Doucet N, Patten SA, Sanderson JT, Castonguay A. Golbaghi G, et al. Among authors: patten sa. Organometallics. 2019 Feb 11;38(3):702-711. doi: 10.1021/acs.organomet.8b00897. Epub 2019 Jan 31. Organometallics. 2019. PMID: 31762529 Free PMC article.
49 results