Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology

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O. Ziff, Jacob Neeves, Jamie S. Mitchell, Giulia E. Tyzack, C. Martínez-Ruiz, Raphaëlle Luisier, A. Chakrabarti, N. Mcgranahan, K. Litchfield, S. Boulton, A. Al-Chalabi, Gavin P. Kelly, J. Humphrey, R. Patani

Nature Communications, 2023

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

Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions

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Rahat Hasan, J. Humphrey, C. Bettencourt, J. Newcombe, T. Lashley, P. Fratta, T. Raj

Acta Neuropathologica, 2021