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Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S, Alhalthli E, Shaw A, Souza CDS, Ferraiuolo L, Hornstein E, Shelkovnikova T, van Dijk CH, Timpanaro IS, Kenna KP, Zeng J, Tsao PS, Shaw PJ, Ichida JK, Cooper-Knock J, Snyder MP. Zhang S, et al. Among authors: shaw pj. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
Author Correction: Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses.
Michael BD, Dunai C, Needham EJ, Tharmaratnam K, Williams R, Huang Y, Boardman SA, Clark JJ, Sharma P, Subramaniam K, Wood GK, Collie C, Digby R, Ren A, Norton E, Leibowitz M, Ebrahimi S, Fower A, Fox H, Tato E, Ellul MA, Sunderland G, Held M, Hetherington C, Egbe FN, Palmos A, Stirrups K, Grundmann A, Chiollaz AC, Sanchez JC, Stewart JP, Griffiths M, Solomon T, Breen G, Coles AJ, Kingston N, Bradley JR, Chinnery PF, Cavanagh J, Irani SR, Vincent A, Baillie JK, Openshaw PJ, Semple MG; ISARIC4C Investigators; COVID-CNS Consortium; Taams LS, Menon DK. Michael BD, et al. Nat Commun. 2024 Apr 4;15(1):2918. doi: 10.1038/s41467-024-47320-6. Nat Commun. 2024. PMID: 38575615 Free PMC article. No abstract available.
Non-negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue.
Alix JJP, Plesia M, Schooling CN, Dudgeon AP, Kendall CA, Kadirkamanathan V, McDermott CJ, Gorman GS, Taylor RW, Mead RJ, Shaw PJ, Day JC. Alix JJP, et al. Among authors: shaw pj. J Raman Spectrosc. 2023 Mar;54(3):258-268. doi: 10.1002/jrs.6480. Epub 2022 Dec 22. J Raman Spectrosc. 2023. PMID: 38505661 Free PMC article.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Among authors: shaw pj. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
935 results