Christopher Shaw

2018

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 othersStory, 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 journal › Article › peer-review

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 othersTopp, 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, (E-pub ahead of print) In: Neuron. 97, 6, p. 1268 1 p.

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447 Citations (Scopus)

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUS^WT 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.

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66 Citations (Scopus)

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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 othersKazoka, 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, (E-pub ahead of print) In: Lancet Neurology.

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345 Citations (Scopus)

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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 othersVan 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

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109 Citations (Scopus)

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.

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20 Citations (Scopus)

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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 Sept 2018, (E-pub ahead of print) In: Journal of Neurology, Neurosurgery and Psychiatry.

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35 Citations (Scopus)

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2017

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Morgan, S., Shatunov, A., Sproviero, W., Jones, A. R., Shoai, M., Hughes, D., Al Khleifat, A., Malaspina, A., Morrison, K. E., Shaw, P. J., Shaw, C. E., Sidle, K., Orrell, R. W., Fratta, P., Hardy, J., Pittman, A. & Al-Chalabi, A., 1 Jun 2017, In: Brain : a journal of neurology. 140, 6, p. 1611-1618 8 p.

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64 Citations (Scopus)

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Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain

Trist, B. G., Davies, K. M., Cottam, V., Genoud, S., Ortega, R., Roudeau, S., Carmona, A., de Silva, K., Wasinger, V., Lewis, S. J. G., Sachdev, P., Smith, B., Troakes, C., Vance, C., Shaw, C., Al-Sarraj, S., Ball, H. J., Halliday, G. M., Hare, D. J. & Double, K. L., 19 May 2017, (E-pub ahead of print) In: Acta Neuropathologica. p. 1-15 15 p.

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79 Citations (Scopus)

ATXN2 trinucleotide repeat length correlates with risk of ALS

Sproviero, W., Shatunov, A., Stahl, D., Shoai, M., van Rheenen, W., Jones, A. R., Al-Sarraj, S., Andersen, P. M., Bonini, N. M., Conforti, F. L., Van Damme, P., Daoud, H., Del Mar Amador, M., Fogh, I., Forzan, M., Gaastra, B., Gellera, C., Gitler, A. D., Hardy, J., Fratta, P., & 27 othersLa Bella, V., Le Ber, I., Van Langenhove, T., Lattante, S., Lee, Y-C., Malaspina, A., Meininger, V., Millecamps, S., Orrell, R., Rademakers, R., Robberecht, W., Rouleau, G., Ross, O. A., Salachas, F., Sidle, K., Smith, B. N., Soong, B-W., Sorarù, G., Stevanin, G., Kabashi, E., Troakes, C., van Broeckhoven, C., Veldink, J. H., van den Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 2017, In: Neurobiology of Aging. 51, p. 178.e1-178.e9

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89 Citations (Scopus)

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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Lee, Y-B., Baskaran, P., Gomez-Deza, J., Chen, H-J., Nishimura, A. L., Smith, B. N., Troakes, C., Adachi, Y., Stepto, A., Petrucelli, L., Gallo, J-M., Hirth, F., Rogelj, B., Guthrie, S. & Shaw, C. E., 15 Dec 2017, In: Human Molecular Genetics. 26, 24, p. 4765-4777 13 p.

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61 Citations (Scopus)

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 othersSproviero, 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.

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219 Citations (Scopus)

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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 othersvan Es, M. A. & For UKMND-LiCALS and LITALS Study Group, 31 Oct 2017, In: Neurology. 89, 18, p. 1915-1922 8 p.

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76 Citations (Scopus)

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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., Scotter, E. L., & 36 othersParkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., Ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., De Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 3 May 2017, In: Science Translational Medicine. 9, 388, 16 p., eaad9157.

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114 Citations (Scopus)

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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Thomas-Jinu, S., Gordon, P. M., Fielding, T., Taylor, R., Smith, B. N., Snowden, V., Blanc, E., Vance, C., Topp, S., Wong, C-H., Bielen, H., Williams, K., McCann, E. P., Nicholson, G. A., Pan-Vazquez, A., Fox, A. H., Bond, C. S., Talbot, W. S., Blair, I. P., Shaw, C. E., & 1 othersHouart, C., 19 Apr 2017, In: Neuron. 94, 2, p. 332-336 e5.

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49 Citations (Scopus)

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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 othersHoffmann, 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 Sept 2017, In: Nature Genetics. 49, p. 1373-1384

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640 Citations (Scopus)

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Remarkable motor recovery after riboflavin therapy in adult-onset Brown–Vialetto–Van Laere syndrome

Bashford, J. A., Chowdhury, F. A. & Shaw, C. E., 1 Feb 2017, In: PRACTICAL NEUROLOGY. 17, 1, p. 53-56 4 p.

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23 Citations (Scopus)

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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 othersMiddelkoop, 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, (E-pub ahead of print) In: Frontiers in Molecular Neuroscience. 10, 370.

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25 Citations (Scopus)

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, (E-pub ahead of print) In: Amyotrophic lateral sclerosis & frontotemporal degeneration. p. 1-7 7 p.

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42 Citations (Scopus)

2016

A clinical tool for predicting survival in ALS

Knibb, J. A., Keren, N., Kulka, A., Leigh, P. N., Martin, S., Shaw, C. E., Tsuda, M. & Al-Chalabi, A., 4 Jul 2016, (E-pub ahead of print) In: Journal of Neurology, Neurosurgery and Psychiatry.

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62 Citations (Scopus)

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ALS/FTD-associated FUS activates GSK-3β to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations

Stoica, R., Paillusson, S., Gomez-Suaga, P., Mitchell, J. C., Lau, D. H. W., Gray, E. H., Sancho, R. M., Vizcay-Barrena, G., De Vos, K. J., Shaw, C., Hanger, D. P., Noble, W. & Miller, C. C. J., 1 Sept 2016, In: EMBO Reports. 17, 9, p. 1326-1342 e201541726.

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201 Citations (Scopus)

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Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Fogh, I., Lin, K., Tiloca, C., Rooney, J., Gellera, C., Diekstra, F. P., Ratti, A., Shatunov, A., Van Es, M. A., Proitsi, P., Jones, A., Sproviero, W., Chiò, A., McLaughlin, R. L., Sorarù, G., Corrado, L., Stahl, D., Del Bo, R., Cereda, C., Castellotti, B., & 29 othersGlass, J. D., Newhouse, S., Dobson, R., Smith, B. N., Topp, S., Van Rheenen, W., Meininger, V., Melki, J., Morrison, K. E., Shaw, P. J., Leigh, P. N., Andersen, P. M., Comi, G. P., Ticozzi, N., Mazzini, L., D'Alfonso, S., Traynor, B. J., Van Damme, P., Robberecht, W., Brown, R. H., Landers, J. E., Hardiman, O., Lewis, C. M., Van Den Berg, L. H., Shaw, C. E., Veldink, J. H., Silani, V., Al-Chalabi, A. & Powell, J., 1 Jul 2016, In: JAMA Neurology. 73, 7, p. 812-820 9 p.

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56 Citations (Scopus)

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C9ORF72 and UBQLN2 are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue

Scotter, E. L., Smyth, L., Bailey, J. W. T., Wong, C. H., de Majo, M., Vance, C. A., Synek, B. J., Turner, C., Pereira, J., Charleston, A., Waldvogel, H. J., Curtis, M. A., Dragunow, M., Shaw, C. E., Smith, B. N. & Faull, R. L. M., 5 Jul 2016, (E-pub ahead of print) In: Neurobiology of Aging.

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15 Citations (Scopus)

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C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

Rooney, J., Fogh, I., Westeneng, H-J., Vajda, A., McLaughlin, R., Heverin, M., Jones, A., van Eijk, R., Calvo, A., Mazzini, L., Shaw, C., Morrison, K., Shaw, P. J., Robberecht, W., Van Damme, P., Al-Chalabi, A., van den Berg, L., Chiò, A., Veldink, J. & Hardiman, O., 23 Sept 2016, (E-pub ahead of print) In: Journal of neurology, neurosurgery, and psychiatry. 7 p.

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35 Citations (Scopus)

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

van Rheenen, W., Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., van der Spek, R. A. A., Võsa, U., de Jong, S., Robinson, M. R., Yang, J., Fogh, I., van Doormaal, P. T., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P., van Eijk, K. R., & 31 othersHarschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-Glavač, M., Koritnik, B., Zidar, J., Leonardis, L., Grošelj, L. D., Millecamps, S., Salachas, F., Meininger, V., de Carvalho, M., Pinto, S., Fratta, P., Topp, S., Curtis, C., Shaw, C. E., Smith, B. N., Leigh, P. N., Powell, J., Lewis, C. M., Breen, G., Al-Chalabi, A. & PARALS Registry, Sept 2016, In: Nature Genetics. 48, p. 1043–1048

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396 Citations (Scopus)

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Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease

Niblock, M., Hortobágyi, T., Troakes, C., Al-Sarraj, S., Spickett, C., Jones, R., Shaw, C. E. & Gallo, J. M., 1 Jan 2016, In: Neurobiology of Aging. 37, p. 45-46 2 p.

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7 Citations (Scopus)

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Maturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytes

Livesey, M. R., Magnani, D., Cleary, E. M., Vasistha, N. A., James, O. T., Selvaraj, B. T., Burr, K., Story, D., Shaw, C. E., Kind, P. C., Hardingham, G. E., Wyllie, D. J. A. & Chandran, S., 1 Apr 2016, In: Stem cells (Dayton, Ohio). 34, 4, p. 1040-1053 14 p.

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57 Citations (Scopus)

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Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

Gaastra, B., Shatunov, A., Pulit, S., Jones, A. R., Sproviero, W., Gillett, A., Chen, Z., Kirby, J., Fogh, I., Powell, J. F., Leigh, P. N., Morrison, K. E., Shaw, P. J., Shaw, C. E., van den Berg, L. H., Veldink, J. H., Lewis, C. M. & Al-Chalabi, A., 2 Sept 2016, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 17, 7-8, p. 593-599 7 p.

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21 Citations (Scopus)

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Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Niblock, M., Smith, B. N., Lee, Y. B., Sardone, V., Topp, S., Troakes, C., Al-Sarraj, S., Leblond, C. S., Dion, P. A., Rouleau, G. A., Shaw, C. E. & Gallo, J. M., 25 Feb 2016, In: Acta Neuropathologica Communications. 4, p. 18 1 p.

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40 Citations (Scopus)

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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Chen, H-J., Mitchell, J. C., Novoselov, S. S., Miller, J. W., Nishimura, A., Scotter, E. L., Vance, C. A., Cheetham, M. E. & Shaw, C. E. D., 1 May 2016, In: Brain. 139, 5, p. 1417–1432

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121 Citations (Scopus)

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2015

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

King, A., Troakes, C., Smith, B., Nolan, M., Curran, O., Vance, C., Shaw, C. E. & Al-Sarraj, S., 9 Oct 2015, In: Acta Neuropathologica Communications. 3, p. 62 1 p.

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22 Citations (Scopus)

152 Downloads (Pure)

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

Gomez-Deza, J., Lee, Y., Troakes, C., Nolan, M., Al-Sarraj, S., Gallo, J. M. & Shaw, C. E., 25 Jun 2015, In: Acta Neuropathologica Communications. 3, 1, 7 p., 38.

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75 Citations (Scopus)

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Erratum to: TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets[Neurotherapeutics, (2015), DOI 10.1007/s13311-015-0338-x]

Scotter, E. L., Chen, H-J. & Shaw, C. E., 12 Apr 2015, In: Neurotherapeutics. 12, 2, p. 515-518 4 p.

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8 Citations (Scopus)

Establishing the UK DNA Bank for motor neuron disease (MND)

Smith, L., Cupid, B. C., Dickie, B. G. M., Al-Chalabi, A., Morrison, K. E., Shaw, C. E. & Shaw, P. J., 14 Jul 2015, In: BMC GENETICS. 16, 1, 84.

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5 Citations (Scopus)

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Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis

Watermeyer, T. J., Brown, R. G., Sidle, K. C. L., Oliver, D. J., Allen, C., Karlsson, J., Ellis, C. M., Shaw, C. E., Al-chalabi, A. & Goldstein, L. H., Jul 2015, In: Journal of Neurology. 262, 7, p. 1681-1690 10 p.

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38 Citations (Scopus)

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., Han, Y., Levy, S. E., Boone, B. E., Wimbish, J. R., Waite, L. L., Jones, A. L., Carulli, J. P., Day-Williams, A. G., & 32 othersStaropoli, J. F., Xin, W. W., Chesi, A., Raphael, A. R., McKenna-Yasek, D., Cady, J., Vianney de Jong, J. M. B., Kenna, K. P., Smith, B. N., Topp, S., Miller, J., Gkazi, A., Al-Chalabi, A., van den Berg, L. H., Veldink, J., Silani, V., Ticozzi, N., Shaw, C. E., Baloh, R. H., Appel, S., Simpson, E., Lagier-Tourenne, C., Pulst, S. M., Gibson, S., Trojanowski, J. Q., Elman, L., McCluskey, L., Grossman, M., Shneider, N. A., Chung, W. K., FALS Sequencing Consortium & Troakes, C., 27 Mar 2015, In: Science. 347, 6229, p. 1436-1441 6 p.

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760 Citations (Scopus)

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Vrabec, K., Koritnik, B., Leonardis, L., Dolenc-Grošelj, L., Zidar, J., Smith, B., Vance, C., Shaw, C., Rogelj, B., Glavač, D. & Ravnik-Glavač, M., 1 Mar 2015, In: Neurobiology of Aging. 36, 3, p. 1601.e17–1601.e20 4 p., 1601.

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11 Citations (Scopus)

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

Devlin, A. C., Burr, K., Borooah, S., Foster, J. D., Cleary, E. M., Geti, I., Vallier, L., Shaw, C. E., Chandran, S. & Miles, G. B., 12 Jan 2015, In: Nature Communications. 6, 5999.

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212 Citations (Scopus)

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Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis

Watermeyer, T. J., Brown, R. G., Sidle, K. C. L., Oliver, D. J., Allen, C., Karlsson, J., Ellis, C. M., Shaw, C. E. D., Al-Chalabi, A. & Goldstein, L. H., 1 Aug 2015, In: Amyotrophic lateral sclerosis & frontotemporal degeneration. 16, 5-6, p. 316-323 8 p.

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31 Citations (Scopus)

443 Downloads (Pure)

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Smith, B. N., Vance, C., Scotter, E. L., Troakes, C., Wong, C. H., Topp, S., Maekawa, S., King, A., Mitchell, J. C., Lund, K., Al-Chalabi, A., Ticozzi, N., Silani, V., Sapp, P., Brown, R. H., Landers, J. E., Al-Sarraj, S. & Shaw, C. E., Mar 2015, In: Neurobiology of Aging. 36, 3, p. 1602.e17-1602.e27 11 p.

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81 Citations (Scopus)

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Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import

Darovic, S., Mihevc, S. P., Župunski, V., Gunčar, G., Štalekar, M., Lee, Y. B., Shaw, C. E. & Rogelj, B., 24 Sept 2015, (E-pub ahead of print) In: Journal of Cell Science. 128, 22, p. 4151-4159 9 p.

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25 Citations (Scopus)

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

Štalekar, M., Yin, X., Rebolj, K., Darovic, S., Troakes, C., Mayr, M., Shaw, C. E. & Rogelj, B., 7 May 2015, In: Neuroscience. 293, p. 157-170 14 p.

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40 Citations (Scopus)

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins

the Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, 19 May 2015, In: Cell Reports. 11, 7, p. 1134-1146 13 p.

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Open Access

78 Citations (Scopus)

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis

Van Der Kleij, L. A., Jones, A. R., Steen, I. N., Young, C. A., Shaw, P. J., Shaw, C. E., Leigh, P. N., Turner, M. R. & Al-Chalabi, A., 27 Nov 2015, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 16, 7-8, p. 442-447 6 p.

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3 Citations (Scopus)

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

Jones, A. R., Troakes, C., King, A., Sahni, V., De Jong, S., Bossers, K., Papouli, E., Mirza, M., Al-Sarraj, S., Shaw, C. E., Shaw, P. J., Kirby, J., Veldink, J. H., Macklis, J. D., Powell, J. F. & Al-Chalabi, A., 19 Feb 2015, (E-pub ahead of print) In: Neurobiology of Aging. p. 2006.e1-2006.e9 9 p.

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18 Citations (Scopus)

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

Scotter, E. L., Chen, H-J. & Shaw, C. E., 1 Apr 2015, In: Neurotherapeutics. 12, 2, p. 352-363 12 p.

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221 Citations (Scopus)

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The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

Wong, C. H., Topp, S., Gkazi, A. S., Troakes, C., Miller, J. W., de Majo, M., Kirby, J., Shaw, P. J., Morrison, K. E., de Belleroche, J., Vance, C. A., Al-Chalabi, A., Al-Sarraj, S., Shaw, C. E. & Smith, B. N., 1 Oct 2015, In: Neurobiology of Aging. 36, 10, p. 2908.e17-2908.e18 2 p.

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20 Citations (Scopus)

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

Lill, C. M., Rengmark, A., Pihlstrøm, L., Fogh, I., Shatunov, A., Sleiman, P. M., Wang, L-S., Liu, T., Lassen, C. F., Meissner, E., Alexopoulos, P., Calvo, A., Chio, A., Dizdar, N., Faltraco, F., Forsgren, L., Kirchheiner, J., Kurz, A., Larsen, J. P., Liebsch, M., & 31 othersLinder, J., Morrison, K. E., Nissbrandt, H., Otto, M., Pahnke, J., Partch, A., Restagno, G., Rujescu, D., Schnack, C., Shaw, C. E., Shaw, P. J., Tumani, H., Tysnes, O-B., Valladares, O., Silani, V., van den Berg, L. H., van Rheenen, W., Veldink, J. H., Lindenberger, U., Steinhagen-Thiessen, E., Teipel, S., Perneczky, R., Hakonarson, H., Hampel, H., von Arnim, C. A. F., Olsen, J. H., Van Deerlin, V. M., Al-Chalabi, A., Toft, M., Ritz, B. & SLAGEN Consortium, 2015, (E-pub ahead of print) In: Alzheimer's & Dementia. 10 p.

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144 Citations (Scopus)

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

Yu, Y., Chi, B., Xia, W., Gangopadhyay, J., Yamazaki, T., Winkelbauer-Hurt, M. E., Yin, S., Eliasse, Y., Adams, E., Shaw, C. E. & Reed, R., 3 Mar 2015, In: Nucleic Acids Research. 43, 6, p. 3208-3218 11 p.

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69 Citations (Scopus)

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VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK

Kwok, C. T., Wang, H. Y., Morris, A. G., Smith, B., Shaw, C. & De Belleroche, J., 15 Feb 2015, In: Journal of the Neurological Sciences. 349, 1-2, p. 209-213 5 p.

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11 Citations (Scopus)

Christopher Shaw

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