TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

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A. Brown, O. Wilkins, M. Keuss, SE. Hill, M. Zanovello, WC. Lee, A. Bampton, FCY. Lee, L. Masino, Y. Qi, S. Bryce-Smith, A. Gatt, M. Hallegger, D. Fagegaltier, H. Phatnani, J. Newcombe, E. Gustavsson, S. Seddighi, Joel F Reyes, Steve Coon, Daniel M. Ramos, G. Schiavo, E.M.C. Fisher, T. Raj, M. Secrier, T. Lashley, J. Ule, E. Buratti, J. Humphrey, Michael E. Ward, P. Fratta

Nature, 2022

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

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J. Humphrey, S. Venkatesh, R. Hasan, Jake T. Herb, K. de Paiva Lopes, Fahri Küçükali, M. Byrska-Bishop, U. S. Evani, G. Narzisi, D. Fagegaltier, K. Sleegers, H. Phatnani, David A. Knowles, P. Fratta, T. Raj

Nature Neuroscience, 2022

Genetic analysis of the human microglia transcriptome across brain regions, aging and disease pathologies

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Katia de Paiva Lopes, G. Snijders, J. Humphrey, Amanda Allan, M. Sneeboer, Elisa Navarro, B. Schilder, R. Vialle, M. Parks, Roy Missall, Welmoed van Zuiden, F. Gigase, Raphael Kübler, Amber Berdenis van Berlekom, Emily M. Hicks, Chotima Bӧttcher, J. Priller, R. Kahn, L. D. de Witte, T. Raj

Nature Genetics, 2022