King's College London

Research portal

Professor Christopher Shaw

  1. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

    BIOS Consortium, Brain MEND Consortium, Hop, P. J., Zwamborn, R. A. J., Hannon, E., Shireby, G. L., Nabais, M. F., Walker, E. M., van Rheenen, W., van Vugt, J. J. F. A., Dekker, A. M., Westeneng, H. J., Tazelaar, G. H. P., van Eijk, K. R., Moisse, M., Baird, D., Al Khleifat, A., Iacoangeli, A., Ticozzi, N., Ratti, A. & 32 others, Cooper-Knock, J., Morrison, K. E., Shaw, P. J., Basak, A. N., Chiò, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Grassano, M., Gotkine, M., Lerner, Y., Zabari, M., Vourc'H, P., Corcia, P., Couratier, P., Mora Pardina, J. S., Salas, T., Dion, P., Ross, J. P., Henderson, R. D., Mathers, S., McCombe, P. A., Needham, M., Nicholson, G., Rowe, D. B., Pamphlett, R., Mather, K. A., Sachdev, P. S., Furlong, S., Shaw, C. E. & Al-Chalabi, A., 23 Feb 2022, In: Science Translational Medicine. 14, 633, eabj0264.

    Research output: Contribution to journalReview articlepeer-review

  2. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

    KORA-Study Group, 21 Jan 2022, In: Circulation Research. 130, 2, p. 166-180 15 p.

    Research output: Contribution to journalArticlepeer-review

  3. Cytoplasmic TDP-43 is involved in cell fate during stress recovery

    Lee, Y-B., Scotter, E. L., Lee, D-Y., Troakes, C., Mitchell, J., Rogelj, B., Gallo, J-M. & Shaw, C. E., 27 Dec 2021, In: Human Molecular Genetics. 31, 2, 10 p., ddab227.

    Research output: Contribution to journalArticlepeer-review

  4. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H. J., Bakker, O. B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E. & 34 others, Dekker, A. M., Gawor, K., Westeneng, H. J., Tazelaar, G. H. P., van Eijk, K. R., Kooyman, M., Byrne, R. P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B. N., Gromicho, M., Chandran, S., Pal, S., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Sendtner, M., Meyer, T., Başak, N., van der Kooi, A. J., Ratti, A., Fogh, I., Wood, N. W., Topp, S., Curtis, C. J., Breen, G., Shaw, C. E. & Al-Chalabi, A., Dec 2021, In: Nature genetics. 53, 12, p. 1636-1648 13 p.

    Research output: Contribution to journalArticlepeer-review

  5. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

    Al Khleifat, A., Iacoangeli, A., Van Vugt, J. J. F. A., Bowles, H., Zwamborn, R. A. J., Moisse, M., Zwamborn, R. A. J., Cooper-Knock, J., Shatunov, A., Jones, A., van Rheenen, W., Opie-Martin, S., Fogh, I., Topp, S., Smith, B., Dobson, R., Shaw, C., Chiò, A., Panades, M. P., Mora, J. S. & 10 others, Shaw, P. J., Landers, J. E., Glass, J. D., Başak, A. N., Hardiman, O., Robberecht, W., Van Damme, P., van den Berg, L. H., Veldink, J. H. & Al-Chalabi, A., 19 Oct 2021, In: NPJ Genomic medicine.

    Research output: Contribution to journalArticlepeer-review

  6. A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

    Gotkine, M., de Majo, M., Wong, C. H., Topp, S. D., Michaelson-Cohen, R., Epsztejn-Litman, S., Eiges, R., Y, Y. L., Kanaan, M., Shaked, H. M., Alahmady, N., Vance, C., Newhouse, S. J., Breen, G., Nishimura, A. L., Shaw, C. E. & Smith, B. N., Oct 2021, In: Neurobiology of Aging. 106, p. 351.e1-351.e6

    Research output: Contribution to journalArticlepeer-review

  7. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

    Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V. & 277 others, Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Chia, R., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mora, G., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Lauria, G., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mora, G., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

    Research output: Contribution to journalArticlepeer-review

  8. First-recruited motor units adopt a faster phenotype in amyotrophic lateral sclerosis

    Bashford, J., Weddell, T., Wickham, A., Iniesta, R., Chen, M., Zhou, P., Drakakis, E., Boutelle, M., Mills, K. & Shaw, C., 1 Sep 2021, In: Journal of Physiology. 599, 17, p. 4117-4130 14 p.

    Research output: Contribution to journalArticlepeer-review

  9. Regulation of synapse weakening through interactions of the microtubule associated protein tau with pacsin1

    Regan, P., Mitchell, S. J., Kim, S. C., Lee, Y., Yi, J. H., Barbati, S. A., Shaw, C. & Cho, K., 25 Aug 2021, In: Journal of Neuroscience. 41, 34, p. 7162-7170 9 p.

    Research output: Contribution to journalArticlepeer-review

  10. Demystifying the spontaneous phenomena of motor hyperexcitability

    Bashford, J., Chan, W. K., Freitas Barbosa Pereira Coutinho, M. E., Norwood, F., Mills, K. & Shaw, C., Aug 2021, In: Clinical Neurophysiology. 132, 8, p. 1830-1844 15 p.

    Research output: Contribution to journalReview articlepeer-review

  11. Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis

    Kaliszewska, A., Allison, J., Col, T. T., Shaw, C. & Arias, N., 2021, (Accepted/In press) In: Cerebellum.

    Research output: Contribution to journalReview articlepeer-review

  12. Cross-reactive probes on Illumina DNA methylation arrays: A large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

    Hop, P. J., Zwamborn, R. A. J., Hannon, E. J., Dekker, A. M., van Eijk, K. R., Walker, E. M., Iacoangeli, A., Jones, A. R., Shatunov, A., Khleifat, A. A., Opie-Martin, S., Shaw, C. E., Morrison, K. E., Shaw, P. J., McLaughlin, R. L., Hardiman, O., Al-Chalabi, A., van Den Berg, L. H., Mill, J. & Veldink, J. H., 1 Dec 2020, In: NAR Genomics and Bioinformatics. 2, 4, lqaa105.

    Research output: Contribution to journalArticlepeer-review

  13. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

    Project MinE ALS Sequencing Consortium, 1 Dec 2020, In: Cell Reports. 33, 9, 108456.

    Research output: Contribution to journalArticlepeer-review

  14. Fasciculation analysis reveals a novel parameter that correlates with predicted survival in ALS

    Wannop, K., Bashford, J., Wickham, A., Iniesta, R., Drakakis, E., Boutelle, M., Mills, K. & Shaw, C., 7 Nov 2020, (Accepted/In press) In: Muscle and Nerve.

    Research output: Contribution to journalArticlepeer-review

  15. Non-invasive measurement of fasciculation frequency demonstrates diagnostic performance in amyotrophic lateral sclerosis

    Tamborska, A., Bashford, J., Wickham, A., Iniesta, R., Masood, U., Cabassi, C., Planinc, D., Hodson-Tole, E., Drakakis, E., Boutelle, M., Mills, K. & Shaw, C., 29 Jul 2020, (Accepted/In press) In: Brain Communications.

    Research output: Contribution to journalArticlepeer-review

  16. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

    QT Syndrome Collaboration, 28 Jul 2020, In: Circulation. 142, 4, p. 324-338 15 p.

    Research output: Contribution to journalArticlepeer-review

  17. ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

    Wu, J. J., Cai, A., Greenslade, J. E., Higgins, N. R., Fan, C., Le, N. T. T., Tatman, M., Whiteley, A. M., Prado, M. A., Dieriks, B. V., Curtis, M. A., Shaw, C. E., Siddique, T., Faull, R. L. M., Scotter, E. L., Finley, D. & Monteiro, M. J., 30 Jun 2020, In: Proceedings of the National Academy of Sciences of the United States of America. 117, 26, p. 15230-15241 12 p.

    Research output: Contribution to journalArticlepeer-review

  18. UK Case control study of smoking and risk of Amyotrophic Lateral Sclerosis

    Martin, S. C., Jones, A. R., Iacoangeli, A., Al Khleifat, A., Oumar, M., Shaw, P. J., Shaw, C. E. D., Morrison, K. E., Wootton, R. E., Smith, G. D., Pearce, N. & Al-Chalabi, A., 17 Apr 2020, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 21, 3-4, p. 222-227 6 p.

    Research output: Contribution to journalArticlepeer-review

  19. Fasciculations demonstrate daytime consistency in amyotrophic lateral sclerosis

    Bashford, J., Masood, U., Wickham, A., Iniesta, R., Drakakis, E., Boutelle, M., Mills, K. & Shaw, C., 24 Mar 2020, (E-pub ahead of print) In: Muscle & nerve.

    Research output: Contribution to journalArticlepeer-review

  20. CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

    Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A. & 18 others, Schofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In: Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

    Research output: Contribution to journalArticlepeer-review

  21. The rise and fall of fasciculations in amyotrophic lateral sclerosis

    Bashford, J., Wickham, A., Iniesta, R., Drakakis, E., Boutelle, M., Mills, K. R. & Shaw, C. E. D., 13 Jan 2020, (Accepted/In press) In: Brain Communications.

    Research output: Contribution to journalArticlepeer-review

  22. The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis

    Kelly, M., Lavrov, A., Garcia-Gancedo, L., Parr, J., Hart, R., Chiwera, T., Shaw, C. E., Al-Chalabi, A., Marsden, R., Turner, M. R. & Talbot, K., 2020, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 21, 7-8, p. 563-573 11 p.

    Research output: Contribution to journalArticlepeer-review

  23. The evolving role of surface electromyography in amyotrophic lateral sclerosis: a systematic review

    Bashford, J., Mills, K. R. & Shaw, C. E. D., 14 Dec 2019, (Accepted/In press) In: Clinical Neurophysiology.

    Research output: Contribution to journalReview articlepeer-review

  24. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

    ALSGENS Consortium, FALS Consortium, Project MinE Consortium, CReATe Consortium, Farhan, S. M. K., Howrigan, D. P., Abbott, L. E., Klim, J. R., Topp, S. D., Byrnes, A. E., Churchhouse, C., Phatnani, H., Smith, B. N., Rampersaud, E., Wu, G., Wuu, J., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Mordes, D. A. & 19 others, Ghosh, S., Eggan, K., Rademakers, R., McCauley, J. L., Schüle, R., Züchner, S., Benatar, M., Taylor, J. P., Nalls, M., Gotkine, M., Shaw, P. J., Morrison, K. E., Al-Chalabi, A., Traynor, B., Shaw, C. E., Goldstein, D. B., Harms, M. B., Daly, M. J. & Neale, B. M., 1 Dec 2019, In: Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

    Research output: Contribution to journalArticlepeer-review

  25. Preprocessing surface EMG data removes voluntary muscle activity and enhances SPiQE fasciculation analysis

    Bashford, J., Wickham, A., Iniesta, R., Boutelle, M., Mills, K. & Shaw, CE., 4 Nov 2019, (E-pub ahead of print) In: Clinical Neurophysiology. 131, 1, p. 265-273 9 p.

    Research output: Contribution to journalArticlepeer-review

  26. RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

    Chen, H-J., Topp, S. D., Hui, H. S., Zacco, E., Katarya, M., McLoughlin, C., King, A., Smith, B. N., Troakes, C., Pastore, A. & Shaw, C. E., 11 Oct 2019, (E-pub ahead of print) In: Brain. 142, 12, p. 3753–3770

    Research output: Contribution to journalArticlepeer-review

  27. C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

    Alzheimer’s Disease Neuroimaging Initiative, Iacoangeli, A., Al Khleifat, A., Jones, A. R., Sproviero, W., Shatunov, A., Opie-Martin, S., Morrison, K. E., Shaw, P. J., Shaw, C. E., Fogh, I., Dobson, R. J., Newhouse, S. J. & Al-Chalabi, A., 17 Jul 2019, In: Acta Neuropathologica Communications. 7, 1, 7 p., 115.

    Research output: Contribution to journalArticlepeer-review

  28. SPiQE: an automated analytical tool for detecting and characterising fasciculations in amyotrophic lateral sclerosis

    Bashford, J., Wickham, A., Iniesta, R., Drakakis, E., Boutelle, M., Mills, K. R. & Shaw, C. E. D., 1 Jul 2019, In: Clinical Neurophysiology. 130, 7, p. 1083-1090 8 p.

    Research output: Contribution to journalArticlepeer-review

  29. Telomere length is greater in ALS than in controls: A whole genome sequencing study

    Al Khleifat, A., Iacoangeli, A., Shatunov, A., Fang, T., Sproviero, W., Jones, A. R., Opie-Martin, S., Morrison, K. E., Shaw, P. J., Shaw, C. E. D., Powell, J. F., Dobson, R. J. B., Newhouse, S. & Al-Chalabi, A., 3 Apr 2019, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 20, 3-4, p. 229-234 6 p., IAFD 1586951.

    Research output: Contribution to journalArticlepeer-review

  30. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Alzheimer Disease Genetics Consortium (ADGC), Mar 2019, In: Nature Genetics. 51, 3, p. 414-430 17 p.

    Research output: Contribution to journalArticlepeer-review

  31. Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

    Cooper-Knock, J., Moll, T., Ramesh, T., Castelli, L., Beer, A., Robins, H., Fox, I., Niedermoser, I., Van Damme, P., Moisse, M., Robberecht, W., Hardiman, O., Panades, M. P., Assialioui, A., Mora, J. S., Basak, A. N., Morrison, K. E., Shaw, C. E., Al-Chalabi, A., Landers, J. E. & 9 others, Wyles, M., Heath, P. R., Higginbottom, A., Walsh, T., Kazoka, M., McDermott, C. J., Hautbergue, G. M., Kirby, J. & Shaw, P. J., 26 Feb 2019, In: Cell Reports. 26, 9, p. 2298-2306.e5

    Research output: Contribution to journalArticlepeer-review

  32. Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

    Ling, S. C., Dastidar, S. G., Tokunaga, S., Ho, W. Y., Lim, K., Ilieva, H., Parone, P. A., Tyan, S. H., Tse, T. M., Chang, J. C., Platoshyn, O., Bui, N. B., Bui, A., Vetto, A., Sun, S., McAlonis-Downes, M., Han, J. S., Swing, D., Kapeli, K., Yeo, G. W. & 8 others, Tessarollo, L., Marsala, M., Shaw, C. E., Tucker-Kellogg, G., La Spada, A. R., Lagier-Tourenne, C., Da Cruz, S. & Cleveland, D. W., 12 Feb 2019, In: eLife. 8

    Research output: Contribution to journalArticlepeer-review

  33. Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology

    Zhao, C., Devlin, A. C., Chouhan, A. K., Selvaraj, B. T., Stavrou, M., Burr, K., Brivio, V., He, X., Mehta, A. R., Story, D., Shaw, C. E., Dando, O., Hardingham, G. E., Miles, G. B. & Chandran, S., 1 Jan 2019, In: GLIA.

    Research output: Contribution to journalArticlepeer-review

  34. Objectively monitoring amyotrophic lateral sclerosis patient symptoms during clinical trials with sensors: Observational study

    Garcia-Gancedo, L., Kelly, M. L., Lavrov, A., Parr, J., Hart, R., Marsden, R., Turner, M. R., Talbot, K., Chiwera, T., Shaw, C. E. & Al-Chalabi, A., 1 Jan 2019, In: Journal of Medical Internet Research. 21, 12, e13433.

    Research output: Contribution to journalArticlepeer-review

  35. ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

    de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H-J., Soragia-Gkazi, A., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. LMA., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown Jr., R. H., Silani, V., Landers, J. E. & Shaw, C. E., 1 Nov 2018, In: Neurobiology of Aging. 71, 0, p. 266.e1-266.e10

    Research output: Contribution to journalArticlepeer-review

  36. ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

    López-Erauskin, J., Tadokoro, T., Baughn, M. W., Myers, B., McAlonis-Downes, M., Chillon-Marinas, C., Asiaban, J. N., Artates, J., Bui, A. T., Vetto, A. P., Lee, S. K., Le, A. V., Sun, Y., Jambeau, M., Boubaker, J., Swing, D., Qiu, J., Hicks, G. G., Ouyang, Z., Fu, X-D. & 8 others, Tessarollo, L., Ling, S-C., Parone, P. A., Shaw, C. E., Marsala, M., Lagier-Tourenne, C., Cleveland, D. W. & Da Cruz, S., 18 Oct 2018, (E-pub ahead of print) In: Neuron.

    Research output: Contribution to journalArticlepeer-review

  37. ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

    Crockford, C., Newton, J., Lonergan, K., Chiwera, T., Booth, T., Chandran, S., Colville, S., Heverin, M., Mays, I., Pal, S., Pender, N., Pinto-Grau, M., Radakovic, R., Shaw, C. E., Stephenson, L., Swingler, R., Vajda, A., Al-Chalabi, A., Hardiman, O. & Abrahams, S., 9 Oct 2018, In: Neurology. 91, 15, p. e1370-e1380

    Research output: Contribution to journalArticlepeer-review

  38. A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

    Solomon, D. A., Stepto, A., Au, W. H., Adachi, Y., Diaper, D. C., Hall, R., Rekhi, A., Boudi, A., Tziortzouda, P., Lee, Y. B., Smith, B., Bridi, J. C., Spinelli, G., Dearlove, J., Humphrey, D. M., Gallo, J. M., Troakes, C., Fanto, M., Soller, M., Rogelj, B. & 4 others, Parsons, R. B., Shaw, C. E., Hortobágyi, T. & Hirth, F., 1 Oct 2018, In: Brain. 141, 10, p. 2908-2924 17 p.

    Research output: Contribution to journalArticlepeer-review

  39. Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

    Mehta, P. R., Jones, A. R., Opie-Martin, S., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Smith, B. N., Topp, S., Morrison, K. E., Shaw, P. J., Shaw, C. E., Morgan, S., Pittman, A. & Al-Chalabi, A., 30 Sep 2018, (E-pub ahead of print) In: Journal of Neurology, Neurosurgery and Psychiatry.

    Research output: Contribution to journalArticlepeer-review

  40. Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

    Tazelaar, G. HP., Dekker, A. M., van Vugt, J. JFA., van der Spek, R. A., Westeneng, H-J., Kool, L. JBG., Kenna, K. P., van Rheenen, W., Pulit, S. L., McLaughlin, R. L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K. E., Shaw, P. J., Shaw, C. E., Panadés, M. P., Mora Pardina, J. S., Glass, J. D. & 11 others, Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J. E., Ludolph, A. C., Weishaupt, J. H., van den Berg, L. H., Veldink, J. H., van Es, M. A. & Project MinE ALS Sequencing Consortium, 22 Sep 2018, (E-pub ahead of print) In: Neurobiology of Aging.

    Research output: Contribution to journalArticlepeer-review

  41. Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

    Project MinE Consortium, Van Rheenen, W., Pulit, S. L., Dekker, A. M., Al Khleifat, A., Brands, W. J., Iacoangeli, A., Kenna, K. P., Kavak, E., Kooyman, M., McLaughlin, R. L., Middelkoop, B., Moisse, M., Schellevis, R. D., Shatunov, A., Sproviero, W., Tazelaar, G. H. P., Van Der Spek, R. A. A., Van Doormal, P. TC., Van Eijk, K. R. & 17 others, Van Vugt, J., Basak, A. N., Glass, J. D., Hardiman, O., Hide, W., Landers, J. E., Mora, J. S., Morrison, K. E., Newhouse, S., Robberecht, W., Shaw, C. E., Shaw, P. J., Van Damme, P., van Es, M. A., Al-Chalabi, A., Van Den Berg, L. H. & Veldink, J. H., 28 Jun 2018, In: European Journal of Human Genetics. 26, 10, p. 1537-1546

    Research output: Contribution to journalArticlepeer-review

  42. TDP-43 causes neurotoxicity and cytoskeletal dysfunction in primary cortical neurons

    Baskaran, P., Shaw, C. & Guthrie, S., 1 May 2018, In: PLoS ONE. 13, 5, e0196528.

    Research output: Contribution to journalArticlepeer-review

  43. Amyotrophic Lateral Sclerosis and Other TDP-43 Proteinopathies

    Gomez-Deza, J. & Shaw, C. E., 4 Apr 2018, The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms. Elsevier Inc., p. 99-115 17 p.

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

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