King's College London

Research portal

Professor Christopher Shaw

  1. 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., 4 Jul 2021, (Accepted/In press) In: Journal of Physiology.

    Research output: Contribution to journalArticlepeer-review

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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, In: Muscle & nerve.

    Research output: Contribution to journalArticlepeer-review

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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, In: Clinical Neurophysiology. 131, 1, p. 265-273 9 p.

    Research output: Contribution to journalArticlepeer-review

  16. 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., 16 Aug 2019, (Accepted/In press) In: Brain.

    Research output: Contribution to journalArticlepeer-review

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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, In: Neuron.

    Research output: Contribution to journalArticlepeer-review

  27. 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

  28. 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

  29. 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, In: Journal of Neurology, Neurosurgery and Psychiatry.

    Research output: Contribution to journalArticlepeer-review

  30. 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, In: Neurobiology of Aging.

    Research output: Contribution to journalArticlepeer-review

  31. 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

  32. 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

  33. 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

  34. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

    Westeneng, H-J., Debray, T. P. A., Visser, A. E., van Eijk, R. P. A., Rooney, J. P. K., Calvo, A., Martin, S., McDermott, C. J., Thompson, A. G., Pinto, S., Kobeleva, X., Rosenbohm, A., Stubendorff, B., Sommer, H., Middelkoop, B. M., Dekker, A. M., van Vugt, J. J. F. A., van Rheenen, W., Vajda, A., Heverin, M. & 27 others, Kazoka, M., Hollinger, H., Gromicho, M., Körner, S., Ringer, T. M., Rödiger, A., Gunkel, A., Shaw, C. E., Bredenoord, A. L., van Es, M. A., Corcia, P., Couratier, P., Weber, M., Grosskreutz, J., Ludolph, A. C., Petri, S., de Carvalho, M., Van Damme, P., Talbot, K., Turner, M. R., Shaw, P. J., Al-Chalabi, A., Chiò, A., Hardiman, O., Moons, K. G. M., Veldink, J. H. & van den Berg, L. H., 26 Mar 2018, In: Lancet Neurology.

    Research output: Contribution to journalArticlepeer-review

  35. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 38 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Fratta, P., Fogh, I., Al-Sarraj, S., Troakes, C., Vance, C., Shatunov, A., Al-Chalabi, A., Iacoangeli, A., Newhouse, S., Shaw, C., Sproviero, W., Shaw, C. E., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium & Al Khleifat, A., 21 Mar 2018, In: Neuron. 97, 6, p. 1268 1 p.

    Research output: Contribution to journalArticlepeer-review

  36. Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

    So, E., Mitchell, J. C., Memmi, C., Chennell, G., Vizcay-Barrena, G., Allison, L., Shaw, C. E. & Vance, C., 1 Feb 2018, In: Human Molecular Genetics. 27, 3, p. 463-474 12 p.

    Research output: Contribution to journalArticlepeer-review

  37. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca 2+-permeable AMPA receptor-mediated excitotoxicity

    Selvaraj, B. T., Livesey, M. R., Chen, Z., Gregory, J. M., James, O. T., Cleary, E. M., Chouhan, A. K., Gane, A. B., Perkins, E. M., Dando, O., Lee, Y., Nishimura, A., Simon, G., Poreci, U., Thankamony, S., Pray, M., Vasistha, N. A., Magnani, D., Borooah, S., Burr, K. & 12 others, Story, D., McCampbell, A., Shaw, C., Kind, P. C., Aitman, T. J., Whitelaw, C. B. A., Wilmut, I., Smith, C., Miles, G. B., Hardingham, G. E., Wyllie, D. J. A. & Chandran, S., 24 Jan 2018, In: Nature Communications.

    Research output: Contribution to journalArticlepeer-review

  38. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

    Selvaraj, B. T., Livesey, M. R., Zhao, C., Gregory, J. M., James, O. T., Cleary, E. M., Chouhan, A. K., Gane, A. B., Perkins, E. M., Dando, O., Lillico, S. G., Lee, Y-B., Nishimura, A. L., Poreci, U., Thankamony, S., Pray, M., Vasistha, N. A., Magnani, D., Borooah, S., Burr, K. & 12 others, Story, D., McCampbell, A., Shaw, C. E., Kind, P. C., Aitman, T. J., Whitelaw, C. B. A., Wilmut, I., Smith, C., Miles, G. B., Hardingham, G. E., Wyllie, D. J. A. & Chandran, S., 24 Jan 2018, In: Nature Communications. 9, 1, p. 347

    Research output: Contribution to journalArticlepeer-review

  39. Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype

    Project MinE ALS Sequencing Consortium, Cooper-Knock, J., Robins, H., Niedermoser, I., Wyles, M., Heath, P. R., Higginbottom, A., Walsh, T., Kazoka, M., Al-Chalabi, A., Basak, N., Blair, I., Dekker, A., Hardiman, O., Hide, W., Iacoangeli, A., Kenna, K., Landers, J., McLaughlin, R., Mill, J. & 31 others, Middelkoop, B., Moisse, M., Pardina, J. M., Morrison, K., Newhouse, S., Pulit, S., Shatunov, A., Shaw, C., Sproviero, W., Tazelaar, G., van Damme, P., van den Berg, L., van der Spek, R., Eijk, K., van Es, M., van Rheenen, W., van Vugt, J., Veldink, J., Kooyman, M., Glass, J., Robberecht, W., Gotkine, M., Drory, V., Kiernan, M., Neto, M. M., Ztaz, M., Couratier, P., Corcia, P., Silani, V., Chio, A. & Al Khleifat, A., 9 Nov 2017, In: Frontiers in Molecular Neuroscience. 10, 370.

    Research output: Contribution to journalArticlepeer-review

  40. Detection of long repeat expansions from PCR-free whole-genome sequence data

    Dolzhenko, E., Van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., Van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B., Johnson, N. H., Kingsbury, Z., Humphray, S. J., Schellevis, R. D., Brands, W. J., Baker, M., Rademakers, R., Kooyman, M., Tazelaar, G. H. P., Van Es, M. A., Mclaughlin, R. & 24 others, Sproviero, W., Shatunov, A., Jones, A., Al Khleifat, A., Pittman, A., Morgan, S., Hardiman, O., Al-chalabi, A., Shaw, C., Smith, B., Neo, E. J., Morrison, K., Shaw, P., Reeves, C., Winterkorn, L., Wexler, N. S., Housman, D. E., Ng, C. W., Li, A. L., Taft, R. J., Van Den Berg, L. H., Bentley, D. R., Veldink, J. H. & Eberle, M. A., Nov 2017, In: Genome Research. 27, 11, p. 1895-1903 9 p.

    Research output: Contribution to journalArticlepeer-review

  41. Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

    van Eijk, R. P. A., Jones, A., Sproviero, W., Shatunov, A., Shaw, P. J., Leigh, P. N., Young, C. A., Shaw, C. E., Mora, G., Mandrioli, J., Borghero, G., Volanti, P., Diekstra, F. P., van Rheenen, W., Verstraete, E., Eijkemans, M. J. C., Veldink, J. H., Chio, A., Al-Chalabi, A., van den Berg, L. H. & 2 others, van Es, M. A. & For UKMND-LiCALS and LITALS Study Group, 31 Oct 2017, In: Neurology. 89, 18, p. 1915-1922 8 p.

    Research output: Contribution to journalArticlepeer-review

  42. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Sims, R., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R. & 31 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S-H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Lupton, M. K., Proitsi, P., Hodges, A., Patel, Y., Al-Chalabi, A., Shaw, C. E., Powell, J. & ARUK Consortium, 1 Sep 2017, In: Nature Genetics. 49, p. 1373-1384

    Research output: Contribution to journalArticlepeer-review

  43. The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison

    Martin, S., Trevor-Jones, E., Khan, S., Shaw, K., Marchment, D., Kulka, A., Ellis, C. E., Burman, R., Turner, M. R., Carroll, L., Mursaleen, L., Leigh, P. N., Shaw, C. E., Pearce, N., Stahl, D. & Al-Chalabi, A., 18 Jul 2017, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. p. 1-7 7 p.

    Research output: Contribution to journalArticlepeer-review

  44. RNA misprocessing in C9orf72-linked neurodegeneration

    Barker, H. V., Niblock, M., Lee, Y-B., Shaw, C. E. & Gallo, J-M., 11 Jul 2017, In: Frontiers in cellular neuroscience. 11, p. 195 195.

    Research output: Contribution to journalReview articlepeer-review

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