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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: ferraiuolo l. medRxiv [Preprint]. 2024 Apr 1:2024.03.30.24305115. doi: 10.1101/2024.03.30.24305115. medRxiv. 2024. PMID: 38633814 Free PMC article. Preprint.
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
Moll T, Odon V, Harvey C, Collins MO, Peden A, Franklin J, Graves E, Marshall JNG, Souza CDS, Zhang S, Azzouz M, Gordon D, Krogan N, Ferraiuolo L, Snyder MP, Shaw PJ, Rehwinkel J, Cooper-Knock J. Moll T, et al. Among authors: ferraiuolo l. bioRxiv [Preprint]. 2022 Mar 7:2022.03.06.483172. doi: 10.1101/2022.03.06.483172. bioRxiv. 2022. PMID: 35291294 Free PMC article. Updated. Preprint.
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: ferraiuolo l. 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.
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis.
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Moll T, Marshall JNG, Harvey C, Nezhad HG, Franklin J, Souza CDS, Ning K, Wang C, Li J, Dilliott AA, Farhan S, Elhaik E, Pasniceanu I, Livesey MR, Eitan C, Hornstein E, Kenna KP; Project MinE ALS Sequencing Consortium; Veldink JH, Ferraiuolo L, Shaw PJ, Snyder MP. Zhang S, et al. Among authors: ferraiuolo l. Neuron. 2022 Mar 16;110(6):992-1008.e11. doi: 10.1016/j.neuron.2021.12.019. Epub 2022 Jan 18. Neuron. 2022. PMID: 35045337 Free PMC article.
Can Astrocytes Be a Target for Precision Medicine?
Allen CF, Shaw PJ, Ferraiuolo L. Allen CF, et al. Among authors: ferraiuolo l. Adv Exp Med Biol. 2017;1007:111-128. doi: 10.1007/978-3-319-60733-7_7. Adv Exp Med Biol. 2017. PMID: 28840555 Review.
Gene expression profiling in human neurodegenerative disease.
Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M, Shaw PJ. Cooper-Knock J, et al. Among authors: ferraiuolo l. Nat Rev Neurol. 2012 Sep;8(9):518-30. doi: 10.1038/nrneurol.2012.156. Epub 2012 Aug 14. Nat Rev Neurol. 2012. PMID: 22890216 Review.
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
Moll T, Odon V, Harvey C, Collins MO, Peden A, Franklin J, Graves E, Marshall JN, Dos Santos Souza C, Zhang S, Castelli L, Hautbergue G, Azzouz M, Gordon D, Krogan N, Ferraiuolo L, Snyder MP, Shaw PJ, Rehwinkel J, Cooper-Knock J. Moll T, et al. Among authors: ferraiuolo l. Life Sci Alliance. 2022 Oct 14;6(1):e202201449. doi: 10.26508/lsa.202201449. Print 2023 Jan. Life Sci Alliance. 2022. PMID: 36241425 Free PMC article.
65 results