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Page 1
Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19.
Erben Y, Prudencio M, Marquez CP, Jansen-West KR, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Qosja N, Song Y, Hanna Al Shaikh R, Daughrity LM, Bartfield JL, Day GS, Oskarsson B, Nicholson KA, Wszolek ZK, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Erben Y, et al. Among authors: oskarsson b. iScience. 2022 Nov 18;25(11):105272. doi: 10.1016/j.isci.2022.105272. Epub 2022 Oct 4. iScience. 2022. PMID: 36213006 Free PMC article.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, Kurti A, Rademakers R, Oskarsson B, Dickson DW, Hu W, Gitler AD, Fryer JD, Petrucelli L. Zhang YJ, et al. Among authors: oskarsson b. Nat Med. 2018 Aug;24(8):1136-1142. doi: 10.1038/s41591-018-0071-1. Epub 2018 Jun 25. Nat Med. 2018. PMID: 29942091 Free PMC article.
Amyotrophic Lateral Sclerosis: An Update for 2018.
Oskarsson B, Gendron TF, Staff NP. Oskarsson B, et al. Mayo Clin Proc. 2018 Nov;93(11):1617-1628. doi: 10.1016/j.mayocp.2018.04.007. Epub 2018 Jul 4. Mayo Clin Proc. 2018. PMID: 30401437 Review.
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.
Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, Lin WL, Tong J, Daughrity LM, Yue M, Song Y, Andersen JW, Castanedes-Casey M, Kurti A, Datta A, Antognetti G, McCampbell A, Rademakers R, Oskarsson B, Dickson DW, Kampmann M, Ward ME, Fryer JD, Link CD, Shorter J, Petrucelli L. Zhang YJ, et al. Among authors: oskarsson b. Science. 2019 Feb 15;363(6428):eaav2606. doi: 10.1126/science.aav2606. Science. 2019. PMID: 30765536 Free PMC article.
Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.
Dickson DW, Baker MC, Jackson JL, DeJesus-Hernandez M, Finch NA, Tian S, Heckman MG, Pottier C, Gendron TF, Murray ME, Ren Y, Reddy JS, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Petrucelli L, Oskarsson B, Sheppard JW, Asmann YW, Rademakers R, van Blitterswijk M. Dickson DW, et al. Among authors: oskarsson b. Acta Neuropathol Commun. 2019 Oct 8;7(1):150. doi: 10.1186/s40478-019-0797-0. Acta Neuropathol Commun. 2019. PMID: 31594549 Free PMC article.
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
Jackson JL, Finch NA, Baker MC, Kachergus JM, DeJesus-Hernandez M, Pereira K, Christopher E, Prudencio M, Heckman MG, Thompson EA, Dickson DW, Shah J, Oskarsson B, Petrucelli L, Rademakers R, van Blitterswijk M. Jackson JL, et al. Among authors: oskarsson b. Mol Neurodegener. 2020 Jan 30;15(1):7. doi: 10.1186/s13024-020-0359-8. Mol Neurodegener. 2020. PMID: 32000838 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: oskarsson b. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy.
Cook CN, Wu Y, Odeh HM, Gendron TF, Jansen-West K, Del Rosso G, Yue M, Jiang P, Gomes E, Tong J, Daughrity LM, Avendano NM, Castanedes-Casey M, Shao W, Oskarsson B, Tomassy GS, McCampbell A, Rigo F, Dickson DW, Shorter J, Zhang YJ, Petrucelli L. Cook CN, et al. Among authors: oskarsson b. Sci Transl Med. 2020 Sep 2;12(559):eabb3774. doi: 10.1126/scitranslmed.abb3774. Sci Transl Med. 2020. PMID: 32878979 Free PMC article.
131 results