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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.
Design and Statistical Innovations in a Platform Trial for Amyotrophic Lateral Sclerosis.
Quintana M, Saville BR, Vestrucci M, Detry MA, Chibnik L, Shefner J, Berry JD, Chase M, Andrews J, Sherman AV, Yu H, Drake K, Cudkowicz M, Paganoni S, Macklin EA; HEALEY ALS Platform Trial Study Group. Quintana M, et al. Ann Neurol. 2023 Sep;94(3):547-560. doi: 10.1002/ana.26714. Epub 2023 Jun 22. Ann Neurol. 2023. PMID: 37245090
Primary lateral sclerosis natural history study - planning, designing, and early enrollment.
Mitsumoto H, Jang G, Lee I, Simmons Z, Sherman AV, Heitzman D, Sorenson E, Cheung K, Andrews J, Harms M, Shneider NA, Santella R, Paganoni S, Ajroud-Driss S, Fernandes JAM, Burke KM, Gwathmey K, Habib AA, Maragakis NJ, Walk D, Fournier C, Heiman-Patterson T, Wymer J, Diaz F, Scelsa SN, Elman L, Genge A, Goutman SA, Hayat G, Jawdat O, Johnston WS, Joyce NC, Kasarskis EJ, Kisanuki YY, Lomen-Hoerth C, Pulley MT, Shah JS, Shoesmith C, Zinman L; PLS Natural History Study Group.. Mitsumoto H, et al. Among authors: fernandes jam. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):394-404. doi: 10.1080/21678421.2022.2161912. Epub 2022 Dec 28. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36576200
45 results