Research outputsListing of Research outputs UK Case control study of smoking and risk of Amyotrophic Lateral SclerosisMartin, 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 & frontotemporaldegeneration.Research output: Contribution to journal › Article

Evolution of white matter damage in amyotrophic lateral sclerosisGabel, M., Broad, R., Young, A., Abrahams, S., Bastin, M., Menke, R., Al-Chalabi, A., Goldstein, L., Tsermentseli, S.,Alexander, D., Turner, M., Leigh, P. N. & Cercignani, M., 16 Mar 2020, (Accepted/In press) In : Annals of Clinical andTranslational Neurology.Research output: Contribution to journal › Article

Facial onset sensory and motor neuronopathy; new cases, cognitive changes and pathophysiologyAl-Chalabi, A., 21 Feb 2020, (Accepted/In press) In : Neurology: Clinical Practice.Research output: Contribution to journal › Article

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiologyReichenstein, I., Eitan, C., Diaz-Garcia, S., Haim, G., Magen, I., Siany, A., Hoye, M. L., Rivkin, N., Olender, T., Toth, B.,Ravid, R., Mandelbaum, A. D., Yanowski, E., Liang, J., Rymer, J. K., Levy, R., Beck, G., Ainbinder, E., Farhan, S. M. K.,Lennox, K. A., Bode, N. M., Behlke, M. A., Möller, T., Saxena, S., Moreno, C. A. M., Costaguta, G., van Eijk, K. R.,Phatnani, H., Al-Chalabi, A., Başak, A. N., van den Berg, L. H., Hardiman, O., Landers, J. E., Mora, J. S., Morrison, K. E.,Shaw, P. J., Veldink, J. H., Pfaff, S. L., Yizhar, O., Gross, C., Brown, R. H., Ravits, J. M., Harms, M. B., Miller, T. M. &Hornstein, E., 18 Dec 2019, In : Science Translational Medicine. 11, 523, eaav5264.Research output: Contribution to journal › Article

Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trialsVan Eijk, R. P. A., Nikolakopoulos, S., Roes, K. C. B., Middelkoop, B. M., Ferguson, T. A., Shaw, P. J., Leigh, P. N., Al-Chalabi, A., Eijkemans, M. J. C. & Van Den Berg, L. H., 1 Dec 2019, In : Journal of Neurology, Neurosurgery andPsychiatry. 90, 12, p. 1331-1337 7 p.Research output: Contribution to journal › Article

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, 1 Dec 2019, In : NatureNeuroscience. 22, 12, p. 1966-1974 9 p.Research output: Contribution to journal › Article

Potential of the Cardiovascular Drug Levosimendan in the Management of Amyotrophic Lateral Sclerosis: An Overview ofa Working HypothesisAl-Chalabi, A., Heunks, L. M. A., Papp, Z. & Pollesello, P., 1 Nov 2019, In : Journal of Cardiovascular Pharmacology. 74, 5, p. 389-399 11 p.Research output: Contribution to journal › Article

Amyotrophic lateral sclerosis as a multi-step process: an Australia population studyVucic, S., Westeneng, H. J., Al-Chalabi, A., Van Den Berg, L. H., Talman, P. & Kiernan, M. C., 2 Oct 2019, In :Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 20, 7-8, p. 532-537 6 p.Research output: Contribution to journal › Article

Needs and preferences for psychological interventions of people with motor neuron diseaseWeeks, K., Gould, R., McDermott, C. J., Lynch, J., Goldstein, L. H., Graham, C. D., McCracken, L., Serfaty, M., Howard,R., Al-Chalabi, A., White, D., Bradburn, M., Young, T., Cooper, C., Shaw, P. J. & Lawrence, V. C., 2 Oct 2019, In :Amyotrophic lateral sclerosis & frontotemporal degeneration. 20, 7-8, p. 521-531 11 p.Research output: Contribution to journal › Article

Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trialGold, J., Rowe, D. B., Kiernan, M. C., Vucic, S., Mathers, S., van Eijk, R. P. A., Nath, A., Garcia Montojo, M., Norato, G.,Santamaria, U. A., Rogers, M. L., Malaspina, A., Lombardi, V., Mehta, P. R., Westeneng, H. J., van den Berg, L. H. & Al-

Chalabi, A., 2 Oct 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 20, 7-8, p. 595-604 10 p.Research output: Contribution to journal › Article

Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlledtrialAl-Chalabi, A., Shaw, P., Leigh, P. N., van den Berg, L., Hardiman, O., Ludolph, A., Aho, V. V., Sarapohja, T. &Kuoppamäki, M., Oct 2019, In : Journal of neurology, neurosurgery, and psychiatry. 90, 10, p. 1165-1170 6 p.Research output: Contribution to journal › Article

Response to the Letter from Garcia-Montojo and colleagues concerning our paper entitled, Quantitative analysis of humanendogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNAin amyotrophic lateral sclerosisGarson, J. A., Usher, L., Al-Chalabi, A., Huggett, J., Day, E. F. & McCormick, A. L., 3 Jul 2019, In : Acta NeuropathologicaCommunications. 7, 1, 1 p.Research output: Contribution to journal › Letter

The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motorneuron diseaseYoung, C. A., Ealing, J., McDermott, C., Williams, T., Al-Chalabi, A., Majeed, T., Burke, G., Pinto, A., Dick, D., Talbot, K.,Harrower, T., Walsh, J., Chandran, S., Hanemann, C. O., Mills, R. & Tennant, A., 3 Jul 2019, In : Amyotrophic LateralSclerosis and Frontotemporal Degeneration . 20, 5-6, p. 317-327 11 p.Research output: Contribution to journal › Article

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsyNNIPPS and BBBIPPS Study Groups, 1 Jul 2019, In : Movement Disorders. 34, 7, p. 1049-1059 11 p.Research output: Contribution to journal › Article

Relative preservation of triceps over biceps strength in upper-limb onset ALS: The ‘split elbow’Khalaf, R., Martin, S., Ellis, C., Burman, R., Sreedharan, J., Shaw, C., Leigh, P. N., Turner, M. R. & Al-Chalabi, A., 1 Jul2019, In : Journal of Neurology, Neurosurgery & Psychiatry. 90, 7, p. 730-733 4 p.Research output: Contribution to journal › Article

DNAscan: Personal computer compatible NGS analysis, annotation and visualisationIacoangeli, A., Al Khleifat, A., Sproviero, W., Shatunov, A., Jones, A. R., Morgan, S. L., Pittman, A., Dobson, R. J.,Newhouse, S. J. & Al-Chalabi, A., 27 Apr 2019, In : BMC Bioinformatics. 20, 1, 213.Research output: Contribution to journal › Article

A standard operating procedure for King’s ALS clinical stagingBalendra, R., Al Khleifat, A., Fang, T. & Al-Chalabi, A., 3 Apr 2019, In : Amyotrophic lateral sclerosis & frontotemporaldegeneration. 20, 3-4, p. 159-164 6 p.Research output: Contribution to journal › Article

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patientsIacoangeli, A., Al Khleifat, A., Sproviero, W., Shatunov, A., Jones, A. R., Opie-Martin, S., Topp, S. D., Fogh, I., Hodges, A.K., Dobson, R. J. B., Newhouse, S. & Al-Chalabi, A., 3 Apr 2019, In : Amyotrophic lateral sclerosis & frontotemporaldegeneration. 20, 3-4, p. 207-215 9 p., ISSN 2167-8421.Research output: Contribution to journal › Article

Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS inthe United Kingdom, 2020–2116Gowland, A., Opie-Martin, S., Scott, K. M., Jones, A. R., Mehta, P. R., Batts, C. J., Ellis, C. M., Leigh, P. N., Shaw, C. E.,Sreedharan, J. & Al-Chalabi, A., 3 Apr 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 20, 3-4, p. 264-274 11 p.Research output: Contribution to journal › Article

Telomere length is greater in ALS than in controls: A whole genome sequencing studyAl 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 journal › Article

Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirmelevated expression of HERV-K RNA in amyotrophic lateral sclerosisGarson, J. A., Usher, L., Al-Chalabi, A., Huggett, J., Day, E. F. & McCormick, A. L., 18 Mar 2019, In : ActaNeuropathologica Communications. 7, 1, p. 45 1 p.Research output: Contribution to journal › Article

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipidprocessingAlzheimer Disease Genetics Consortium (ADGC), Mar 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.Research output: Contribution to journal › Article

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral SclerosisCooper-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., 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.e5Research output: Contribution to journal › Article

New therapies for neuromuscular diseases in 2018Shah, A. M. & Al-Chalabi, A., 1 Jan 2019, In : The Lancet Neurology. 18, 1, p. 12-13 2 p.Research output: Contribution to journal › Comment/debate

Objectively monitoring amyotrophic lateral sclerosis patient symptoms during clinical trials with sensors: ObservationalstudyGarcia-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 journal › Article

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spasticparaplegia and frontotemporal dementiaGkazi, S. A., Troakes, C., Topp, S., Miller, J. W., Vance, C. A., Sreedharan, J., Al-Chalabi, A., Kirby, J., Shaw, P. J., Al-Sarraj, S., King, A., Smith, B. N. & Shaw, C. E., Jan 2019, In : Neurobiology of Aging. 73, p. 229.e5-229.e9Research output: Contribution to journal › Article

Retrotransposons in the development and progression of amyotrophic lateral sclerosisSavage, A. L., Schumann, G. G., Breen, G., Bubb, V. J., Al-Chalabi, A. & Quinn, J. P., 10 Oct 2018, In : Journal ofNeurology, Neurosurgery and Psychiatry.Research output: Contribution to journal › Article

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALSCrockford, 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-e1380Research output: Contribution to journal › Article

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather thanascertainment biasMehta, 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 journal › Article

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohortTazelaar, 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., 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 journal › Article

The multistep hypothesis of ALS revisited: The role of genetic mutationsChiò, A., Mazzini, L., D'Alfonso, S., Corrado, L., Canosa, A., Moglia, C., Manera, U., Bersano, E., Brunetti, M., Barberis,M., Veldink, J. H., Van Den Berg, L. H., Pearce, N., Sproviero, W., McLaughlin, R., Vajda, A., Hardiman, O., Rooney, J.,Mora, G., Calvo, A. & Al-Chalabi, A., 14 Aug 2018, In : Neurology. 91, 7, p. e635-e642Research output: Contribution to journal › Article

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and geneticcorrelation to neurodegenerative diseasesChen, J. A., Chen, Z., Won, H., Huang, A. Y., Lowe, J. K., Wojta, K., Yokoyama, J. S., Bensimon, G., Leigh, P. N., Payan,C., Shatunov, A., Jones, A. R., Lewis, C. M., Deloukas, P., Amouyel, P., Tzourio, C., Dartigues, J. F., Ludolph, A., Boxer,A. L., Bronstein, J. M., Al-Chalabi, A., Geschwind, D. H. & Coppola, G., 8 Aug 2018, In : Molecular Neurodegeneration. 13, 1, 41.Research output: Contribution to journal › Article

The life expectancy of Stephen Hawking, according to the ENCALS modelWesteneng, H-J., Al-Chalabi, A., Hardiman, O., Debray, T. PA. & van den Berg, L. H., Aug 2018, In : The LancetNeurology. 17, 8, p. 662-663 2 p.Research output: Contribution to journal › Letter

Distinct clinical features and outcomes in motor neuron disease associated with behavioural variant frontotemporaldementiaCortés-Vicente, E., Turon-Sans, J., Gelpi, E., Clarimón, J., Borrego-Écija, S., Dols-Icardo, O., Illán-Gala, I., Lleó, A., Illa, I.,Blesa, R., Al-Chalabi, A. & Rojas-Garciá, R., 1 Jul 2018, In : Dementia and Geriatric Cognitive Disorders. 45, 3-4, p. 220-231 12 p.Research output: Contribution to journal › Article

Development and validation of Spasticity Index-Amyotrophic Lateral SclerosisTONiC study group, Milinis, K., Tennant, A., Mills, R. J., Al-Chalabi, A., Burke, G., Dick, D. J., Ealing, J., Hanemann, C. O.,Harrower, T., McDermott, C. J., Majeed, T., Pinto, A., Talbot, K., Williams, T. & Young, C. A., Jul 2018, In : ActaNeurologica Scandinavica. 138, 1, p. 47-54Research output: Contribution to journal › Article

Stage of prolonged survival in ALS –: Author's replyAl-Chalabi, A., Fang, T., Khleifat, A. A., Meurgey, J-H., Jones, A., Leigh, P. N. & Bensimon, G., Jul 2018, In : The LancetNeurology. 17, 7, p. 579-580 2 p.Research output: Contribution to journal › Article

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateralsclerosisProject 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., 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 Jun2018, In : European Journal of Human Genetics. 26, 10, p. 1537-1546Research output: Contribution to journal › Article

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionde 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., 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., 25 Jun 2018, In : Neurobiology ofAging.Research output: Contribution to journal › Article

Analysis of shared heritability in common disorders of the brainBrainstorm Consortium, 22 Jun 2018, In : Science. 360, 6395Research output: Contribution to journal › Article

Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysisof data from a dose-ranging studyFang, T., Al Khleifat, A., Meurgey, J-H., Jones, A., Leigh, P. N., Bensimon, G. & Al-Chalabi, A., 1 May 2018, In : LancetNeurology. 17, 5, p. 416-422 7 p.Research output: Contribution to journal › Article

Finding a Treatment for ALS - Will Gene Editing Cut It?Al-Chalabi, A. & Brown, R. H., 12 Apr 2018, In : New England Journal of Medicine. 378, 15, p. 1454-1456 3 p.Research output: Contribution to journal › Article

Elongator subunit 3 (ELP3) modifies ALS through tRNA modificationBento-Abreu, A., Jager, G., Swinnen, B., Rué, L., Hendrickx, S., Jones, A., Staats, K. A., Taes, I., Eykens, C., Nonneman,A., Nuyts, R., Timmers, M., Silva, L., Chariot, A., Nguyen, L., Ravits, J., Lemmens, R., Cabooter, D., Van Den Bosch, L.,Van Damme, P., Al-Chalabi, A., Bystrom, A. & Robberecht, W., 1 Apr 2018, In : Human Molecular Genetics. 27, 7, p.1276-1289 14 p.Research output: Contribution to journal › Article

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction modelWesteneng, 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., 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 : LancetNeurology.Research output: Contribution to journal › Article

Genome-wide Analyses Identify KIF5A as a Novel ALS GeneNicolas, 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., 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 Disordersfor Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALSSequencing Consortium & Al Khleifat, A., 21 Mar 2018, In : Neuron. 97, 6, p. 1268 1 p.Research output: Contribution to journal › Article

Measuring reliable change in cognition using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)Crockford, C., Newton, J., Lonergan, K., Madden, C., Mays, I., O'Sullivan, M., Costello, E., Pinto-Grau, M., Vajda, A.,Heverin, M., Pender, N., Al-Chalabi, A., Hardiman, O. & Abrahams, S., Feb 2018, In : Amyotrophic lateral sclerosis &frontotemporal degeneration. 19, 1-2, p. 65-73 9 p.Research output: Contribution to journal › Article

Reconsidering the causality of TIA1 mutations in ALSProject MinE ALS Sequencing Consortium, van der Spek, R. A., van Rheenen, W., Pulit, S. L., Kenna, K. P., Ticozzi, N.,Kooyman, M., Mclaughlin, R. L., Moisse, M., van Eijk, K. R., van Vugt, J. J. F. A., Iacoangeli, A., Andersen, P., NazliBasak, A., Blair, I., de Carvalho, M., Chio, A., Corcia, P., Couratier, P., Drory, V. E., Glass, J. D., Hardiman, O., Mora, J.S., Morrison, K. E., Mitne-Neto, M., Robberecht, W., Shaw, P. J., Panadés, M. P., van Damme, P., Silani, V., Gotkine, M.,Weber, M., van Es, M. A., Landers, J. E., Al-Chalabi, A., van den Berg, L. H. & Veldink, J. H., Feb 2018, In : Amyotrophiclateral sclerosis & frontotemporal degeneration. 19, 1-2, p. 1-3 3 p.Research output: Contribution to journal › Editorial

ECAS A-B-C: alternate forms of the Edinburgh Cognitive and Behavioural ALS ScreenCrockford, C. J., Kleynhans, M., Wilton, E., Radakovic, R., Newton, J., Niven, E. H., Al-Chalabi, A., Hardiman, O., Bak, T.H. & Abrahams, S., 5 Dec 2017, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . p. 1-8 8 p.Research output: Contribution to journal › Article

Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinicalphenotypeProject 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., 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 derSpek, 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., 9Nov 2017, In : Frontiers in Molecular Neuroscience. 10, 370.Research output: Contribution to journal › Article

Detection of long repeat expansions from PCR-free whole-genome sequence dataDolzhenko, 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., 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 journal › Article

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trialsvan 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., van Es, M. A. & For UKMND-LiCALS and LITALS Study Group, 31 Oct2017, In : Neurology. 89, 18, p. 1915-1922 8 p.Research output: Contribution to journal › Article

Perspective: Don't keep it in the familyAl-Chalabi, A., 18 Oct 2017, In : NATURE. 550, 7676, p. S112Research output: Contribution to journal › Article

Amyotrophic lateral sclerosisHardiman, O., Al-Chalabi, A., Chio, A., Corr, E. M., Logroscino, G., Robberecht, W., Shaw, P. J., Simmons, Z. & Van DenBerg, L. H., 5 Oct 2017, In : Nature Review Disease Primers. 3, 17071.Research output: Contribution to journal › Review article

July 2017 ENCALS statement on edaravoneAl-Chalabi, A., Andersen, P. M., Chandran, S., Chio, A., Corcia, P., Couratier, P., Danielsson, O., de Carvalho, M.,Desnuelle, C., Grehl, T., Grosskreutz, J., Holmøy, T., Ingre, C., Karlsborg, M., Kleveland, G., Christoph Koch, J., Koritnik,B., KuzmaKozakiewicz, M., Laaksovirta, H., Ludolph, A., McDermott, C., Meyer, T., Mitre Ropero, B., Mora Pardina, J.,Nygren, I., Petri, S., Povedano Panades, M., Salachas, F., Shaw, P., Silani, V., Staaf, G., Svenstrup, K., Talbot, K.,Tysnes, O. B., Van Damme, P., van der Kooi, A., Weber, M., Weydt, P., Wolf, J., Hardiman, O. & van den Berg, L. H., 4Oct 2017, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 4 p.Research output: Contribution to journal › Article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's diseaseSims, 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., 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. & ARUKConsortium, 1 Sep 2017, In : Nature Genetics. 49, p. 1373 1384 p.

Research output: Contribution to journal › Article

The changing picture of amyotrophic lateral sclerosis: Lessons from European registersHardiman, O., Al-Chalabi, A., Brayne, C., Beghi, E., van den Berg, L. H., Chio, A., Martin, S., Logroscino, G. & Rooney, J.,17 Aug 2017, In : Journal of Neurology, Neurosurgery and Psychiatry.Research output: Contribution to journal › Article

The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparisonMartin, 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 lateralsclerosis & frontotemporal degeneration. p. 1-7 7 p.Research output: Contribution to journal › Article

Amyotrophic Lateral SclerosisBrown, R. H. & Al-Chalabi, A., 13 Jul 2017, In : New England Journal of Medicine. 377, 2, p. 162-172 11 p.Research output: Contribution to journal › Article

Genetic screening in sporadic ALS and FTDTurner, M. R., Al-Chalabi, A., Chio, A., Hardiman, O., Kiernan, M. C., Rohrer, J. D., Rowe, J., Seeley, W. & Talbot, K., 22Jun 2017, In : Journal of neurology, neurosurgery, and psychiatry.Research output: Contribution to journal › Article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKMorgan, 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.Research output: Contribution to journal › Article

Nonmotor Symptoms in Amyotrophic Lateral Sclerosis: A Systematic ReviewFang, T., Jozsa, F. & Al-Chalabi, A., 1 Jun 2017, In : International Review of Neurobiology.Research output: Contribution to journal › Article

Amyotrophic lateral sclerosisvan Es, M. A., Hardiman, O., Chio, A., Al-Chalabi, A., Pasterkamp, R. J., Veldink, J. H. & van den Berg, L. H., 25 May2017, In : Lancet.Research output: Contribution to journal › Article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisSmith, 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., Parkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney deJong, 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., DeBelleroche, 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, 388Research output: Contribution to journal › Article

What causes amyotrophic lateral sclerosis?Martin, S., Al Khleifat, A. & Al-Chalabi, A., 28 Mar 2017, In : F1000Research. 6, 371.Research output: Contribution to journal › Article

Genetic correlation between amyotrophic lateral sclerosis and schizophreniaMcLaughlin, R. L., Schijven, D., van Rheenen, W., van Eijk, K. R., O'Brien, M., Kahn, R. S., Ophoff, R. A., Goris, A.,Bradley, D. G., Al-Chalabi, A., van den Berg, L. H., Luykx, J. J., Hardiman, O., Veldink, J. H. & Project MinE GWASConsortium, 21 Mar 2017, In : Nature Communications. 8, p. 14774Research output: Contribution to journal › Article

Genetic testing in ALS: A survey of current practicesVajda, A., McLaughlin, R. L., Heverin, M., Thorpe, O., Abrahams, S., Al-Chalabi, A. & Hardiman, O., 7 Mar 2017, In :Neurology. 88, 10, p. 991-999 9 p.Research output: Contribution to journal › Article

ATXN2 trinucleotide repeat length correlates with risk of ALSSproviero, 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., La 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., vanden Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 2017, In : Neurobiology of Aging. 51, p. 178.e1-178.e9Research output: Contribution to journal › Article

Comparison of the King's and MiToS staging systems for ALSFang, T., Al Khleifat, A., Stahl, D. R., Lazo La Torre, C., Murphy, C., Young, C., Shaw, P. J., Leigh, P. N., Al-Chalabi, A. &Uk-Mnd LicalS, 5 Jan 2017, In : Amyotrophic lateral sclerosis & frontotemporal degeneration. p. 1-6 6 p.Research output: Contribution to journal › Article

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosisBenyamin, B., He, J., Zhao, Q., Gratten, J., Garton, F., Leo, P. J., Liu, Z., Mangelsdorf, M., Al-Chalabi, A., Anderson, L.,Butler, T. J., Chen, L., Chen, X. D., Cremin, K., Deng, H. W., Devine, M., Edson, J., Fifita, J. A., Furlong, S., Han, Y. Y.,Harris, J., Henders, A. K., Jeffree, R. L., Jin, Z. B., Li, Z., Li, T., Li, M., Lin, Y., Liu, X., Marshall, M., McCann, E. P., Mowry,B. J., Ngo, S. T., Pamphlett, R., Ran, S., Reutens, D. C., Rowe, D. B., Sachdev, P., Shah, S., Song, S., Tan, L. J., Tang,L., Van Den Berg, L. H., Van Rheenen, W., Veldink, J. H., Wallace, R. H., Wheeler, L., Williams, K. L., Wu, J., Wu, X.,Yang, J., Yue, W., Zhang, Z. H., Zhang, D., Noakes, P. G., Blair, I. P., Henderson, R. D., McCombe, P. A., Visscher, P.M., Xu, H., Bartlett, P. F., Brown, M. A., Wray, N. R. & Fan, D., 2017, In : Nature Communications. 8, 611, p. 1-7Research output: Contribution to journal › Article

Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumbChen, Z., Lin, K., Macklis, J. D. & Al-Chalabi, A., 23 Dec 2016, In : Amyotrophic lateral sclerosis & frontotemporaldegeneration. p. 1-7 7 p.Research output: Contribution to journal › Article

Gene discovery in amyotrophic lateral sclerosis: implications for clinical managementAl-Chalabi, A., van den Berg, L. H. & Veldink, J., 16 Dec 2016, In : Nature Reviews Neurology.Research output: Contribution to journal › Article

Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis PatientsBenigni, M., Ricci, C., Jones, A. R., Giannini, F., Al-Chalabi, A. & Battistini, S., 1 Dec 2016, In : NEUROMOLECULARMEDICINE. 18, 4, p. 551-560 10 p.Research output: Contribution to journal › Article

Amyotrophic lateral sclerosis: moving towards a new classification systemAl-Chalabi, A., Hardiman, O., Kiernan, M. C., Chiò, A., Rix-Brooks, B. & van den Berg, L. H., 1 Oct 2016, In : LancetNeurology. 15, 11, p. 1182-94 13 p.Research output: Contribution to journal › Article

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosisRooney, 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 Sep 2016, In : Journal of neurology, neurosurgery, and psychiatry. 7 p.Research output: Contribution to journal › Article

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosisGaastra, 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 Sep 2016, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . 17, 7-8, p. 593-599 7 p.Research output: Contribution to journal › Article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., van Rheenen, W., van Eijk,K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S. D., Kenna, A., Miller, J.W., Fallini, C., Tiloca, C., McLaughlin, R. L., Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., de Belleroche, J., Baas, F., van der Kooi, A. J., de Visser, M., Ten Asbroek, A. L. M. A.,Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E.,Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, G. A., Turner, M. R., Glass, J. D., Al-Chalabi, A., Shaw, C. E. &SLAGEN Consortium, 1 Sep 2016, In : Nature Genetics. 48, 9, p. 1037-42 6 p.Research output: Contribution to journal › Letter

A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosisMcgeachan, A. J., Hobson, E. V., Al-chalabi, A., Stephenson, J., Chandran, S., Crawley, F., Dick, D., Donaghy, C., Ellis,C. M., Gorrie, G., Hanemann, C. O., Harrower, T., Jung, A., Malaspina, A., Morrison, K. E., Orrell, R. W., Talbot, K.,Turner, M. R., Williams, T. L., Young, C. A., Shaw, P. J. & Mcdermott, C. J., 31 Aug 2016, In : Amyotrophic LateralSclerosis and Frontotemporal Degeneration . 1-9, 9, p. 1-9 9 p.Research output: Contribution to journal › Article

Decision Making About Gastrostomy and Noninvasive Ventilation in Amyotrophic Lateral SclerosisMartin, N. H., Lawrence, V., Murray, J., Janssen, A., Higginson, I., Lyall, R., Burman, R., Leigh, P. N., Al-Chalabi, A. &Goldstein, L. H., Aug 2016, In : Qualitative Health Research. 26, 10, p. 1366-1381Research output: Contribution to journal › Article

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosisvan 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., Harschnitz, 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, 25 Jul2016, In : Nature Genetics.Research output: Contribution to journal › Article

A clinical tool for predicting survival in ALSKnibb, J. A., Keren, N., Kulka, A., Leigh, P. N., Martin, S., Shaw, C. E., Tsuda, M. & Al-Chalabi, A., 4 Jul 2016, In :Journal of Neurology, Neurosurgery and Psychiatry.Research output: Contribution to journal › Article

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisFogh, 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., Glass, 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., VanDamme, 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.Research output: Contribution to journal › Article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization StudyPrins, B. P., Abbasi, A., Wong, A., Vaez, A., Nolte, I., Franceschini, N., Stuart, P. E., Guterriez Achury, J., Mistry, V.,Bradfield, J. P., Valdes, A. M., Bras, J., Shatunov, A., Lu, C., Han, B., Raychaudhuri, S., Bevan, S., Mayes, M. D., Tsoi, L.C., Evangelou, E., Nair, R. P., Grant, S. F. A., Polychronakos, C., Radstake, T. R. D., van Heel, D. A., Dunstan, M. L.,Wood, N. W., Al-Chalabi, A., Dehghan, A., Hakonarson, H., Markus, H. S., Elder, J. T., Knight, J., Arking, D. E., Spector,T. D., Koeleman, B. P. C., van Duijn, C. M., Martin, J., Morris, A. P., Weersma, R. K., Wijmenga, C., Munroe, P. B., Perry,J. R. B., Pouget, J. G., Jamshidi, Y., Snieder, H., Alizadeh, B. Z. & PAGE Consortium, 21 Jun 2016, In : PL o S Medicine. 13, 6, e1001976.Research output: Contribution to journal › Article

Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of ageAragones, J. M., Altimiras, J., Roura-Poch, P., Homs, E., Bajo, L., Povedano, M., Cortés-Vicente, E., Illa, I., Al-Chalabi, A.& Rojas-García, R., 25 May 2016, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . p. 1-6 6 p.Research output: Contribution to journal › Article

Analysis of terms used for the diagnosis and classification of amyotrophic lateral sclerosis and motor neuron diseaseRutter-Locher, Z., Turner, M. R., Leigh, P. N. & Al-Chalabi, A., 18 May 2016, In : Amyotrophic Lateral Sclerosis andFrontotemporal Degeneration . p. 1-5 5 p.Research output: Contribution to journal › Article

How integrated are neurology and palliative care services? Results of a multicentre mapping exercisevan Vliet, L. M., Gao, W., DiFrancesco, D., Crosby, V., Wilcock, A., Byrne, A., Al-Chalabi, A., Chaudhuri, K. R., Evans, C.,Silber, E., Young, C., Malik, F., Quibell, R., Higginson, I. J. & OPTCARE Neuro, 10 May 2016, In : BMC Neurology. 16, 1Research output: Contribution to journal › Article

A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS)Janssens, A. I. W. A., Ruytings, M., Al-Chalabi, A., Chio, A., Hardiman, O., Mcdermott, C. J., Meyer, T., Mora, G., VanDamme, P., Van Den Berg, L. H., Vanhaecht, K., Winkler, A. S. & Sermeus, W., 14 Apr 2016, In : Amyotrophic LateralSclerosis and Frontotemporal Degeneration . p. 1-12 12 p.Research output: Contribution to journal › Article

The ALSFRS as an outcome measure in therapeutic trials and its relationship to symptom onsetProudfoot, M., Jones, A., Talbot, K., Al-Chalabi, A. & Turner, M. R., 11 Feb 2016, In : Amyotrophic Lateral Sclerosis andFrontotemporal Degeneration . p. 1-12 12 p.Research output: Contribution to journal › Article

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosisVan 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.Research output: Contribution to journal › Article

Mapping the human exposome: Without it, how can we find environmental risk factors for ALS?Al-Chalabi, A. & Pearce, N., 1 Nov 2015, In : Epidemiology. 26, 6, p. 821-823 3 p.Research output: Contribution to journal › Comment/debate

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patientsWong, C. H., Topp, S., Gkazi, A. S., Troakes, C., Miller, J. W., de Majo, M., Kirby, J., Shaw, P. J., Morrison, K. E., deBelleroche, J., Vance, C. A., Al-Chalabi, A., Al-Sarraj, S., Shaw, C. E. & Smith, B. N., 1 Oct 2015, In : Neurobiology ofAging. 36, 10, p. 2908.e17-2908.e18 2 p.Research output: Contribution to journal › Article

Endogenous retroviruses in ALS: A reawakening?Brown, R. H. & Al-Chalabi, A., 30 Sep 2015, In : Science Translational Medicine. 7, 307, p. 1-4 4 p., 307fs40.Research output: Contribution to journal › Article

Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosisWatermeyer, 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.Research output: Contribution to journal › Article

Psychotherapy and pharmacotherapy interventions to reduce distress or improve well-being in people with amyotrophiclateral sclerosis: A systematic reviewGould, R., Coulson, M. C., Brown, R. G., Goldstein, L. H., Al-Chalabi, A. & Howard, R. J., 15 Jul 2015, In : Amyotrophiclateral sclerosis & frontotemporal degeneration. 16, 5-6, p. 293-302 9 p.

Research output: Contribution to journal › Article

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 : BMCGENETICS. 16, 1, 84.Research output: Contribution to journal › Article

Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosisWatermeyer, 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.Research output: Contribution to journal › Article

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteinsthe Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, 19 May 2015, In : Cell Reports. 11, 7, p. 1134-1146 13 p.Research output: Contribution to journal › Article

Accepting or declining non-invasive ventilation or gastrostomy in amyotrophic lateral sclerosis: patients’ perspectivesGreenaway, L. P., Martin, N. H., Lawrence, V. C., Janssen, A., Al-Chalabi, A., Leigh, P. N. & Goldstein, L. H., Apr 2015,In : Journal of Neurology. 262, 4, p. 1002-1013 12 p.Research output: Contribution to journal › Article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysCirulli, 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., Staropoli, J. F., Xin, W. W., Chesi, A., Raphael, A. R., McKenna-Yasek, D., Cady, J., Vianney deJong, 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 SequencingConsortium, 27 Mar 2015, In : Science. 347, 6229, p. 1436-1441 6 p.Research output: Contribution to journal › Article

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosisMorgan, S., Shoai, M., Fratta, P., Sidle, K., Orrell, R., Sweeney, M. G., Shatunov, A., Sproviero, W., Jones, A., Al-Chalabi,A., Malaspina, A., Houlden, H., Hardy, J. & Pittman, A., Mar 2015, In : Neurobiology of Aging. 36, 3, p. 1600.e5-1600.e8 3p.Research output: Contribution to journal › Article

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genesJones, 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, In : Neurobiology of Aging. p. 2006.e1-2006.e9 9 p.Research output: Contribution to journal › Article

Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trialsBalendra, R., Jones, A., Jivraj, N., Steen, I. N., Young, C. A., Shaw, P. J., Turner, M. R., Leigh, P. N., Al-Chalabi, A. & UK-MND LiCALS Study Group, Mito Target ALS Study Group, Jan 2015, In : Journal of Neurology, Neurosurgery andPsychiatry. 86, 1, p. 45-49 5 p.Research output: Contribution to journal › Article

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateralsclerosis, and Parkinson's diseaseLill, 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., Linder, 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., vanRheenen, 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, In : Alzheimer's & Dementia. 10 p.

Research output: Contribution to journal › Article

Heritability of amyotrophic lateral sclerosisFogh, I., Al-Chalabi, A. & Powell, J., 1 Dec 2014, In : JAMA Neurology. 71, 12, p. 1579-1580 2 p.Research output: Contribution to journal › Article

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling studyAl-Chalabi, A., Calvo, A., Chio, A., Colville, S., Ellis, C. M., Hardiman, O., Heverin, M., Howard, R. S., Huisman, M. H. B.,Keren, N., Leigh, P. N., Mazzini, L., Mora, G., Orrell, R. W., Rooney, J., Scott, K. M., Scotton, W. J., Seelen, M., Shaw, C.E., Sidle, K. S., Swingler, R., Tsuda, M., Veldink, J. H., Visser, A. E., van den Berg, L. H. & Pearce, N., Nov 2014, In :Lancet Neurology. 13, 11, p. 1108-1113 6 p.Research output: Contribution to journal › Article

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALSSmith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W.,Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C.,Pensato, V., Castellotti, B., de Belleroche, J., Baas, F., Ten Asbroek, A. L., Sapp, P. C., McKenna-Yasek, D., McLaughlin,R. L., Polak, M., Asress, S., Esteban-Pérez, J., Muñoz-Blanco, J. L., Simpson, M., van Rheenen, W., Diekstra, F. P.,Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Morrison, K. E., Williams, K. L., Nicholson, G. A., Blair,I. P., Dion, P. A., Leblond, C. S., Rouleau, G. A., Hardiman, O., Al-Chalabi, A., Shaw, C. E. & SLAGEN Consortium, 22Oct 2014, In : Neuron. 84, 2, p. 324-331 8 p.Research output: Contribution to journal › Article

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival studyvan Doormaal, P. T. C., Ticozzi, N., Gellera, C., Ratti, A., Taroni, F., Chiò, A., Calvo, A., Mora, G., Restagno, G., Traynor,B. J., Birve, A., Lemmens, R., van Es, M. A., Saris, C. G. J., Blauw, H. M., van Vught, P. W. J., Groen, E. J. N., Corrado,L., Mazzini, L., Del Bo, R., Corti, S., Waibel, S., Meyer, T., Ludolph, A. C., Goris, A., van Damme, P., Robberecht, W.,Shatunov, A., Fogh, I., Andersen, P. M., D'Alfonso, S., Hardiman, O., Cronin, S., Rujescu, D., Al-Chalabi, A., Landers, J.E., Silani, V., van den Berg, L. H. & Veldink, J. H., Oct 2014, In : Neurobiology of Aging. 35, 10, p. 2420.e13-2420.e14 2 p.Research output: Contribution to journal › Article

Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy inamyotrophic lateral sclerosis (ALS): A prospective population studyMartin, N. H., Landau, S., Janssen, A., Lyall, R., Higginson, I., Burman, R., McCrone, P., Sakel, M., Ellis, C. M., Shaw, C.E., Al-Chalabi, A., Leigh, P. N. & Goldstein, L. H., Sep 2014, In : Amyotrophic lateral sclerosis & frontotemporaldegeneration. 15, 5-6, p. 376-387 12 p.Research output: Contribution to journal › Article

C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysisDiekstra, F. P., Van Deerlin, V. M., van Swieten, J. C., Al-Chalabi, A., Ludolph, A. C., Weishaupt, J. H., Hardiman, O.,Landers, J. E., Brown, R. H., van Es, M. A., Pasterkamp, R. J., Koppers, M., Andersen, P. M., Estrada, K., Rivadeneira,F., Hofman, A., Uitterlinden, A. G., van Damme, P., Melki, J., Meininger, V., Shatunov, A., Shaw, C. E., Leigh, P. N.,Shaw, P. J., Morrison, K. E., Fogh, I., Chiò, A., Traynor, B. J., Czell, D., Weber, M., Heutink, P., de Bakker, P. I. W., Silani,V., Robberecht, W., van den Berg, L. H. & Veldink, J. H., Jul 2014, In : Annals of Neurology. 76, 1, p. 120-133 14 p.Research output: Contribution to journal › Article

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-controlsampleFahey, C., Byrne, S., McLaughlin, R., Kenna, K., Shatunov, A., Donohoe, G., Gill, M., Al-Chalabi, A., Bradley, D. G.,Hardiman, O., Corvin, A. P. & Morris, D. W., Jun 2014, In : Neurobiology of Aging. 35, 6, p. 1510.e1-1510.e5 5 p.Research output: Contribution to journal › Article

Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating ScaleBalendra, R., Jones, A., Jivraj, N., Knights, C., Ellis, C. M., Burman, R., Turner, M. R., Leigh, P. N., Shaw, C. E. & Al-Chalabi, A., Jun 2014, In : Amyotrophic lateral sclerosis & frontotemporal degeneration. 15, 3-4, p. 279-284 6 p.Research output: Contribution to journal › Article

Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosisJones, A. R., Jivraj, N., Balendra, R., Murphy, C., Kelly, J., Thornhill, M., Young, C., Shaw, P. J., Leigh, P. N., Turner, M.R., Steen, I. N., McCrone, P. & Al-Chalabi, A., Jun 2014, In : Amyotrophic lateral sclerosis & frontotemporal degeneration. 15, 3-4, p. 285-291 7 p.Research output: Contribution to journal › Article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateralsclerosisFogh, I., Ratti, A., Gellera, C., Lin, K., Tiloca, C., Moskvina, V., Corrado, L., Sorarù, G., Cereda, C., Corti, S., Gentilini, D.,Calini, D., Castellotti, B., Mazzini, L., Querin, G., Gagliardi, S., Del Bo, R., Conforti, F. L., Siciliano, G., Inghilleri, M.,Saccà, F., Bongioanni, P., Penco, S., Corbo, M., Sorbi, S., Filosto, M., Ferlini, A., Di Blasio, A. M., Signorini, S., Shatunov,A., Jones, A., Shaw, P. J., Morrison, K. E., Farmer, A. E., Van Damme, P., Robberecht, W., Chiò, A., Traynor, B. J.,Sendtner, M., Melki, J., Meininger, V., Hardiman, O., Andersen, P. M., Leigh, N. P., Glass, J. D., Shaw, C. E., Weale, M.E., Lewis, C. M., Al-Chalabi, A., Powell, J. & the SLAGEN Consortium Collaborators, 15 Apr 2014, In : Human MolecularGenetics. 23, 8, p. 2220-2231 12 p., N/A.Research output: Contribution to journal › Article

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALSSavage, A. L., Wilm, T. P., Khursheed, K., Shatunov, A., Morrison, K. E., Shaw, P. J., Shaw, C. E., Smith, B., Breen, G.,Al-Chalabi, A., Moss, D., Bubb, V. J. & Quinn, J. P., 7 Mar 2014, In : PLoS ONE. 9, 3, p. N/A 8 p., e90833.Research output: Contribution to journal › Article

Evidence of an environmental effect on survival in ALSKeren, N., Scott, K. M., Tsuda, M., Barnwell, J., Knibb, J. A., Ellis, C. M., Leigh, P. N., Shaw, C. E. & Al-Chalabi, A., 2014,In : Amyotrophic lateral sclerosis & frontotemporal degeneration. 6 p.Research output: Contribution to journal › Article

High-calorie diets in amyotrophic lateral sclerosisAl-Chalabi, A., 2014, In : The Lancet. N/A, N/A, p. N/A 2 p., N/A.Research output: Contribution to journal › Comment/debate

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathologyBeer, A. M., Cooper-Knock, J., Higginbottom, A., Highley, J. R., Wharton, S. B., Ince, P. G., Milano, A., Jones, A. A., Al-Chalabi, A., Kirby, J. & Shaw, P. J., 2014, In : Amyotrophic lateral sclerosis & frontotemporal degeneration. p. 1-3 3 p.Research output: Contribution to journal › Article

Motor neuron disease: Common genetic variants and the heritability of ALSAl-Chalabi, A. & Visscher, P. M., 2014, In : Nature Reviews Neurology. 2 p.Research output: Contribution to journal › Article

Novel mutations support a role for Profilin 1 in the pathogenesis of ALSSmith, 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., 2014, In :Neurobiology of Aging. 11 p.Research output: Contribution to journal › Article

Quantifying disease progression in amyotrophic lateral sclerosisSimon, N. G., Turner, M. R., Vucic, S., Al-Chalabi, A., Shefner, J., Lomen-Hoerth, C. & Kiernan, M. C., 2014, In : Annals ofNeurology.Research output: Contribution to journal › Article

The El Escorial criteria: Strengths and weaknessesAgosta, F., Al-Chalabi, A., Filippi, M., Hardiman, O., Kaji, R., Meininger, V., Nakano, I., Shaw, P., Shefner, J., van denBerg, L. H., Ludolph, A. & The WFN Research Group on ALS/MND, 2014, In : Amyotrophic lateral sclerosis &frontotemporal degeneration. 7 p.Research output: Contribution to journal › Article

The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational studyWallace, V. C. J., Ellis, C. M., Burman, R., Knights, C., Shaw, C. E. & Al-Chalabi, A., 2014, In : Amyotrophic lateralsclerosis & frontotemporal degeneration. 8 p.Research output: Contribution to journal › Article

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) miceStaats, K. A., Van Helleputte, L., Jones, A. R., Bento-Abreu, A., Van Hoecke, A., Shatunov, A., Simpson, C. L., Lemmens,R., Jaspers, T., Fukami, K., Nakamura, Y., Brown, R. H., Van Damme, P., Liston, A., Robberecht, W., Al-Chalabi, A. &Van Den Bosch, L., Dec 2013, In : Neurobiology of Disease. 60, N/A, p. 11-17 7 p., N/A.Research output: Contribution to journal › Article

Healthcare Professionals’ Views on the Provision of Gastrostomy and Noninvasive Ventilation to Amyotrophic LateralSclerosis Patients in England, Wales, and Northern IrelandRuffell, T., Martin, N., Janssen, A., Wijesekera, L., Knights, C., Burman, R., Oliver, D. J., Al-Chalabi, A. & Goldstein, L.,Dec 2013, (Accepted/In press) In : Journal of Palliative Care. 29, 4, p. 225-231 7 p.Research output: Contribution to journal › Article

Homozygosity analysis in amyotrophic lateral sclerosisMok, K., Laaksovirta, H., Tienari, P. J., Peuralinna, T., Myllykangas, L., Chiò, A., Traynor, B. J., Nalls, M. A., Gurunlian, N.,Shatunov, A., Restagno, G., Mora, G., Nigel Leigh, P., Shaw, C. E., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Hardy, J.& Orrell, R. W., Dec 2013, In : European journal of human genetics : EJHG. 21, 12, p. 1429-1435 7 p., N/A.Research output: Contribution to journal › Article

Management of sialorrhoea in motor neuron disease: A survey of current UK practiceHobson, E. V., McGeachan, A., Al-Chalabi, A., Chandran, S., Crawley, F., Dick, D., Donaghy, C., Ealing, J., Ellis, C. M.,Gorrie, G., Hanemann, C. O., Harrower, T., Jung, A., Majeed, T., Malaspina, A., Morrison, K., Orrell, R. W., Pall, H., Pinto,A., Talbot, K., Turner, M. R., Williams, T. L., Young, C. A., Shaw, P. J. & McDermott, C. J., Dec 2013, In : Amyotrophiclateral sclerosis & frontotemporal degeneration. 14, 7-8, p. 521-527 7 p., N/A.Research output: Contribution to journal › Article

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-basedcase-control cohort study of familial and sporadic amyotrophic lateral sclerosisByrne, S., Heverin, M., Elamin, M., Bede, P., Lynch, C., Kenna, K., Maclaughlin, R., Walsh, C., Al Chalabi, A. & Hardiman,O., Nov 2013, In : Annals of Neurology. 74, 5, p. 699-708 10 p.Research output: Contribution to journal › Article

The epidemiology of ALS: a conspiracy of genes, environment and timeAl-Chalabi, A. & Hardiman, O., Nov 2013, In : Nature Reviews Neurology. 9, 11, p. 617-628 12 p., N/A.Research output: Contribution to journal › Review article

Amyotrophic lateral sclerosis and cancer: A register-based study in SwedenFang, F., Al-Chalabi, A., Ronnevi, L-O., Turner, M. R., Wirdefeldt, K., Kamel, F. & Ye, W., Sep 2013, In : Amyotrophiclateral sclerosis & frontotemporal degeneration. 14, 5-6, p. 362-368 7 p.Research output: Contribution to journal › Article

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeatJones, A. R., Woollacott, I., Shatunov, A., Cooper-Knock, J., Buchman, V., Sproviero, W., Smith, B., Scott, K. M.,Balendra, R., Abel, O., McGuffin, P., Ellis, C. M., Shaw, P. J., Morrison, K. E., Farmer, A., Lewis, C. M., Leigh, P. N.,Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Sep 2013, In : Neurobiology of Aging. 34, 9, p. 2234.e1-2234.e7 7 p., N/A.Research output: Contribution to journal › Article

Genome-wide association study identifies variants at CLU and PICALM associated with AlzheimertextquotesinglesdiseaseHarold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K.,Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K.,Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D.,McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N.,Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., Bussche, H. V. D., Heuser, I., Kornhuber, J.,Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C.,

Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., Deyn, P. P. D., Broeckhoven, C. V.,Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M.,Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K-H., Klopp, N., Wichmann, H-E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Holmans, P. A., OtextquotesingleDonovan, M., Owen, M. J. &Williams, J., 1 May 2013, In : Nature Genetics. 45, 6, p. 712-712 1 p.Research output: Contribution to journal › Article

Current pathways for epidemiological research in amyotrophic lateral sclerosisFactor-Litvak, P., Al-Chalabi, A., Ascherio, A., Bradley, W., Chío, A., Garruto, R., Hardiman, O., Kamel, F., Kasarskis, E.,McKee, A., Nakano, I., Nelson, L. M. & Eisen, A., May 2013, In : Amyotrophic lateral sclerosis & frontotemporaldegeneration. 14, S1, p. 33-43 11 p.Research output: Contribution to journal › Article

Genetic and epigenetic studies of amyotrophic lateral sclerosisAl-Chalabi, A., Kwak, S., Mehler, M., Rouleau, G., Siddique, T., Strong, M. & Leigh, P. N., May 2013, In : Amyotrophiclateral sclerosis & frontotemporal degeneration. 14, S1, p. 44-52 9 p.Research output: Contribution to journal › Article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosisvan Rheenen, W., Diekstra, F. P., van Doormaal, P. T. C., Seelen, M., Kenna, K., McLaughlin, R., Shatunov, A., Czell, D.,van Es, M. A., van Vught, P. W. J., van Damme, P., Smith, B. N., Waibel, S., Schelhaas, H. J., van der Kooi, A. J., deVisser, M., Weber, M., Robberecht, W., Hardiman, O., Shaw, P. J., Shaw, C. E., Morrison, K. E., Al-Chalabi, A., Andersen,P. M., Ludolph, A. C., Veldink, J. H. & van den Berg, L. H., May 2013, In : Neurobiology of Aging. 34, 5, p. 1517.e5-7 3 p.Research output: Contribution to journal › Article

Infrastructure resources for clinical research in amyotrophic lateral sclerosisSherman, A. V., Gubitz, A. K., Al-Chalabi, A., Bedlack, R., Berry, J., Conwit, R., Harris, B. T., Horton, D. K., Kaufmann, P.,Leitner, M. L., Miller, R., Shefner, J., Vonsattel, J. P. & Mitsumoto, H., May 2013, In : Amyotrophic lateral sclerosis &frontotemporal degeneration. 14, S1, p. 53-61 9 p.Research output: Contribution to journal › Article

Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?Taylor, L. J., Brown, R. G., Tsermentseli, S., Al-Chalabi, A., Shaw, C. E., Ellis, C. M., Leigh, P. N. & Goldstein, L. H., May2013, In : Journal of Neurology, Neurosurgery and Psychiatry. 84, 5, p. 494-498 5 p.Research output: Contribution to journal › Article

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosisDeng, M., Wei, L., Zuo, X., Tian, Y., Xie, F., Hu, P., Zhu, C., Yu, F., Meng, Y., Wang, H., Zhang, F., Ma, H., Ye, R., Cheng,H., Du, J., Dong, W., Zhou, S., Wang, C., Wang, Y., Wang, J., Chen, X., Sun, Z., Zhou, N., Jiang, Y., Liu, X., Li, X., Zhang,N., Liu, N., Guan, Y., Han, Y., Han, Y., Lv, X., Fu, Y., Yu, H., Xi, C., Xie, D., Zhao, Q., Xie, P., Wang, X., Zhang, Z., Shen,L., Cui, Y., Yin, X., Cheng, H., Liang, B., Zheng, X., Lee, T. M. C., Chen, G., Zhou, F., Veldink, J. H., Robberecht, W.,Landers, J. E., Andersen, P. M., Al-Chalabi, A., Shaw, C., Liu, C., Tang, B., Xiao, S., Robertson, J., Zhang, F., van denBerg, L. H., Sun, L., Liu, J., Yang, S., Ju, X., Wang, K. & Zhang, X., 28 Apr 2013, In : Nature Genetics. 45, 6, p. 697-700 4p.Research output: Contribution to journal › Article

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegenerationby loss-of-function phenotypesDiaper, D., Adachi, Y., Sutcliffe, B., Humphrey, D. M., Elliott, C. J. H., Stepto, A., Ludlow, Z. N., Vanden Broeck, L.,Callaerts, P., Dermaut, B., Al-Chalabi, A., Shaw, C. E., Robinson, I. M. & Hirth, F., 15 Apr 2013, In : Human MolecularGenetics. 22, 8, p. 1539-1557 19 p.Research output: Contribution to journal › Article

Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trialUKMND-LiCALS Study Group, Apr 2013, In : Lancet Neurology. 12, 4, p. 339-345 7 p.Research output: Contribution to journal › Article

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1The ALSGEN Consortium, Jan 2013, In : Neurobiology of Aging. 34, 1, p. 357.e7-19 13 p.Research output: Contribution to journal › Article

Erratum: Residual association of chromosome 9P21 SNPS with ALS after exclusion of C9ORF72 mutated cases(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2012) 13 (18))Jones, A., Shatunov, A., Ellis, C. M., Leigh, P. N., Shaw, C. E. & Al-Chalabi, A., Jan 2013, In : Amyotrophic LateralSclerosis and Frontotemporal Degeneration . 14, 1, p. 80 1 p.Research output: Contribution to journal › Comment/debate

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderSmith, B. N., Newhouse, S., Shatunov, A., Vance, C., Topp, S., Johnson, L., Miller, J., Lee, Y., Troakes, C., Scott, K. M.,Jones, A., Gray, I., Wright, J., Hortobágyi, T., Al-Sarraj, S., Rogelj, B., Powell, J., Lupton, M., Lovestone, S., Sapp, P. C.,Weber, M., Nestor, P. J., Schelhaas, H. J., Asbroek, A. A. T., Silani, V., Gellera, C., Taroni, F., Ticozzi, N., Van den Berg,L., Veldink, J., Van Damme, P., Robberecht, W., Shaw, P. J., Kirby, J., Pall, H., Morrison, K. E., Morris, A., de Belleroche,J., Vianney de Jong, J. M. B., Baas, F., Andersen, P. M., Landers, J., Brown, R. H., Weale, M. E., Al-Chalabi, A. & Shaw,C. E., Jan 2013, In : European Journal of Human Genetics. 21, 1, p. 102-108 7 p., N/A.Research output: Contribution to journal › Article

Credibility analysis of putative disease-causing genes using bioinformaticsAbel, O., Powell, J. F., Andersen, P. M. & Al-Chalabi, A., 2013, In : PLoS ONE. 8, 6, p. e64899Research output: Contribution to journal › Article

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database(ALSoD)Abel, O., Shatunov, A., Jones, A. R., Andersen, P. M., Powell, J. F. & Al-Chalabi, A., 2013, In : JMIR mHealth anduHealth. 1, 2, 10 p., e18.Research output: Contribution to journal › Article

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosisGoris, A., van Setten, J., Diekstra, F., Ripke, S., Patsopoulos, N. A., Sawcer, S. J., van Es, M., Andersen, P. M., Melki, J.,Meininger, V., Hardiman, O., Landers, J. E., Brown, R. H., Shatunov, A., Leigh, N., Al-Chalabi, A., Shaw, C. E., Traynor,B. J., Chiò, A., Restagno, G., Mora, G., Ophoff, R. A., Oksenberg, J. R., Van Damme, P., Compston, A., Robberecht, W.,Dubois, B., van den Berg, L. H., De Jager, P. L., Veldink, J. H., de Bakker, P. I. W. & The International Multiple SclerosisGenetics Consortium, 2013, In : Human Molecular Genetics. N/A, N/A, p. N/A 7 p., N/A.Research output: Contribution to journal › Article

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patientsJohnson, L., Miller, J. W., Gkazi, A. S., Vance, C., Topp, S. D., Newhouse, S. J., Al-Chalabi, A., Smith, B. N. & Shaw, C.E., Dec 2012, In : Neurobiology of Aging. 33, 12, p. - 3 p., 2948.e15.Research output: Contribution to journal › Article

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsMiller, J. W., Smith, B. N., Topp, S. D., Al-Chalabi, A., Shaw, C. E. & Vance, C., Nov 2012, In : Neurobiology of Aging. 33,11, p. - 2 p., 2721.e1.Research output: Contribution to journal › Article

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions incerebral cortex, hippocampus and cerebellum but without associated cognitive declineTroakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Siklos, L., Bell, C., Smith, B., Newhouse, S., Vance, C., Johnson, L., Hortobagyi, T., Shatunov, A., Al-Chalabi, A., Leigh, N., Shaw, C. E., King, A. & Al-Sarraj, S., Oct 2012, In :Neuropathology. 32, 5, p. 505-514 10 p.Research output: Contribution to journal › Article

Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feedingJohnson, J., Leigh, P. N., Shaw, C. E., Ellis, C., Burman, R. & Al-Chalabi, A., Oct 2012, In : Amyotrophic Lateral Sclerosis(United Kingdom). 13, 6, p. 555-559 5 p.Research output: Contribution to journal › Article

Prognostic categories for amyotrophic lateral sclerosisScotton, W. J., Scott, K. M., Moore, D. H., Almedom, L., Wijesekera, L. C., Janssen, A., Nigro, C., Sakel, M., Leigh, P. N.,Shaw, C. & Al-Chalabi, A., Oct 2012, In : Amyotrophic Lateral Sclerosis (United Kingdom). 13, 6, p. 502-508 7 p.Research output: Contribution to journal › Article

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis geneticsAbel, O., Powell, J. F., Andersen, P. M. & Al-Chalabi, A., Sep 2012, In : Human Mutation. 33, 9, p. 1345-1351 7 p.Research output: Contribution to journal › Article

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humansVan Hoecke, A., Schoonaert, L., Lemmens, R., Timmers, M., Staats, K. A., Laird, A. S., Peeters, E., Philips, T., Goris, A.,Dubois, B., Andersen, P. M., Al-Chalabi, A., Thijs, V., Turnley, A. M., van Vught, P. W., Veldink, J. H., Hardiman, O., VanDen Bosch, L., Gonzalez-Perez, P., Van Damme, P., Brown, R. H., van den Berg, L. H. & Robberecht, W., Sep 2012, In :Nature Medicine. 18, 9, p. 1418-1422 5 p.Research output: Contribution to journal › Article

The genetics and neuropathology of amyotrophic lateral sclerosisAl-Chalabi, A., Jones, A., Troakes, C., Al-Sarraj, S. & van den Berg, L. H., Sep 2012, In : Acta Neuropathologica. 124, 3,p. 339-352 14 p.Research output: Contribution to journal › Literature review

Young-onset amyotrophic lateral sclerosis: historical and other observationsTurner, M. R., Barnwell, J., Al-Chalabi, A. & Eisen, A., Sep 2012, In : Brain. 135, 9, p. 2883-2891 9 p.Research output: Contribution to journal › Article

Common Genetic Variants and Gene-Expression Changes Associated with Bipolar Disorder Are Over-Represented inBrain Signaling Pathway GenesPedroso, I., Lourdusamy, A., Rietschel, M., Noethen, M. M., Cichon, S., McGuffin, P., Al-Chalabi, A., Barnes, M. R. &Breen, G., 15 Aug 2012, In : Biological psychiatry. 72, 4, p. 311-317 7 p.Research output: Contribution to journal › Article

Association of a Serotonin Receptor 2A Gene Polymorphism with Visual Sustained Attention in Early-Onset SchizophreniaPatients and their Non-Psychotic SiblingsVyas, N. S., Lee, Y., Ahn, K., Ternouth, A., Stahl, D. R., Al-Chalabi, A., Powell, J. F. & Puri, B. K., Aug 2012, In : Agingand Disease. 3, 4, p. 291-300 10 p.Research output: Contribution to journal › Article

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALSDiekstra, F. P., Saris, C. G. J., van Rheenen, W., Franke, L., Jansen, R. C., van Es, M. A., van Vught, P. W. J., Blauw, H.M., Groen, E. J. N., Horvath, S., Estrada, K., Rivadeneira, F., Hofman, A., Uitterlinden, A. G., Robberecht, W., Andersen,P. M., Melki, J., Meininger, V., Hardiman, O., Landers, J. E., Brown, R. H., Shatunov, A., Shaw, C. E., Leigh, P. N., Al-Chalabi, A., Ophoff, R. A., van den Berg, L. H. & Veldink, J. H., 11 Apr 2012, In : PL o S One . 7, 4, p. e35333 9 p., 35333.Research output: Contribution to journal › Article

A proposed staging system for amyotrophic lateral sclerosisRoche, J. C., Rojas-Garcia, R., Scott, K. M., Scotton, W., Ellis, C. E., Burman, R., Wijesekera, L., Turner, M. R., Leigh, P.N., Shaw, C. E. & Al-Chalabi, A., Mar 2012, In : Brain. 135, 3, p. 847 - 852 6 p.Research output: Contribution to journal › Article

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: apopulation-based cohort studyByrne, S., Elamin, M., Bede, P., Shatunov, A., Walsh, C., Corr, B., Heverin, M., Jordan, N., Kenna, K., Lynch, C.,McLaughlin, R. L., Iyer, P. M., O'Brien, C., Phukan, J., Wynne, B., Bokde, A. L., Bradley, D. G., Pender, N., Al-Chalabi, A.& Hardiman, O., Mar 2012, In : Lancet Neurology. 11, 3, p. 232 - 240 9 p.Research output: Contribution to journal › Article

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisBogaert, E., Goris, A., Van Damme, P., Geelen, V., Lemmens, R., van Es, M. A., van den Berg, L. H., Sleegers, K.,Verpoorten, N., Timmerman, V., De Jonghe, P., Van Broeckhoven, C., Traynor, B. J., Landers, J. E., Brown, R. H., Glass,J. D., Al-Chalabi, A., Shaw, C. E., Birve, A., Andersen, P. M., Slowik, A., Tomik, B., Melki, J., Robberecht, W. & Van DenBosch, L., Feb 2012, In : Neurobiology of Aging. 33, 2, p. 418 - 420 3 p.Research output: Contribution to journal › Article

Chromosome 9 ALS and FTD locus is probably derived from a single founderMok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., Boxer, A. L., DeJesus-Hernandez, M., Mackenzie, I. R., Waite, A., Williams, N., Morris, H. R., Simón-Sánchez, J., van Swieten, J. C., Heutink, P., Restagno, G., Mora, G., Morrison, K. E., Shaw, P. J., Rollinson, P. S., Al-Chalabi, A., Rademakers, R., Pickering-Brown, S., Orrell, R. W., Nalls, M. A. & Hardy, J., Jan 2012, In : Neurobiology ofAging. 33, 1, p. 209.e3-8Research output: Contribution to journal › Article

No evidence for a large difference in ALS frequency in populations of African and European origin: A population basedstudy in inner city LondonRojas-Garcia, R., Scott, K. M., Roche, J. C., Scotton, W., Martin, N., Janssen, A., Goldstein, L. H., Leigh, P. N., Ellis, C.M., Shaw, C. E. & Al-Chalabi, A., Jan 2012, In : Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 13, 1,p. 66 - 68 3 p.Research output: Contribution to journal › Article

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's diseaseGerrish, A., Russo, G., Richards, A., Moskvina, V., Ivanov, D., Harold, D., Sims, R., Abraham, R., Hollingworth, P.,Chapman, J., Hamshere, M., Pahwa, J. S., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R.,Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan,K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Johnston, J. A., Holmes, C., Mann, D., Smith, A.D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Kölsch, H., Heun,R., Schürmann, B., van den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H.,Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Livingston, G.,Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Davies, G., Harris, S. E., Starr, J. M., Deary, I. J., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel,K-H., Klopp, N., Wichmann, H-E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Jones, L., Holmans, P. A.,O'Donovan, M. C., Owen, M. J. & Williams, J., 2012, In : JOURNAL OF ALZHEIMERS DISEASE. 28, 2, p. 377-387 11 p.Research output: Contribution to journal › Article

Infection of the Central Nervous System, Sepsis and Amyotrophic Lateral SclerosisFang, F., Chen, H., Wirdefeldt, K., Ronnevi, L-O., Al-Chalabi, A., Peters, T. L., Kamel, F. & Ye, W., 27 Dec 2011, In : PL oS One . 6, 12, e29749.Research output: Contribution to journal › Article

The risk to relatives of patients with sporadic amyotrophic lateral sclerosisHanby, M. F., Scott, K. M., Scotton, W., Wijesekera, L., Mole, T., Ellis, C. E., Leigh, P. N., Shaw, C. E. & Al-Chalabi, A.,Dec 2011, In : Brain. 134, 12, p. 3451 - 3454 4 p.Research output: Contribution to journal › Article

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampusdefine the pathology of C9orf72-linked FTLD and MND/ALSAl-Sarraj, S., King, A., Troakes, C., Smith, B., Maekawa, S., Bodi, I., Rogelj, B., Al-Chalabi, A., Hortobagyi, T. & Shaw, C.E., Dec 2011, In : Acta Neuropathologica. 122, 6, p. 691-702 12 p.Research output: Contribution to journal › Article

Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic LateralSclerosis (LiCALS) [Eudract number: 2008-006891-31]Al-Chalabi, A., Shaw, P. J., Young, C. A., Morrison, K. E., Murphy, C., Thornhill, M., Kelly, J., Steen, I. N., Leigh, P. N. &UKMND-LiCALS, 21 Sep 2011, In : BMC Neurology. 11, 14 p., 111.Research output: Contribution to journal › Article

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial DiseaseAl-Chalabi, A. & Lewis, C. M., Sep 2011, In : Human Heredity. 71, 4, p. 281 - 288 8 p.Research output: Contribution to journal › Article

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosisTurner, M. R., Wicks, P., Brownstein, C. A., Massagli, M. P., Toronjo, M., Talbot, K. & Al-Chalabi, A., Aug 2011, In :Journal of Neurology, Neurosurgery and Psychiatry. 82, 8, p. 853 - 854 2 p.Research output: Contribution to journal › Article

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databasesLill, C. M., Abel, O., Bertram, L. & Al-Chalabi, A., Jul 2011, In : Amyotrophic Lateral Sclerosis and Other Motor NeuronDisorders. 12, 4, p. 238 - 249 12 p.Research output: Contribution to journal › Article

Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerabilityVivekananda, U., Manjalay, Z-R., Ganesalingam, J., Simms, J., Shaw, C. E., Leigh, P. N., Turner, M. R. & Al-Chalabi, A.,Jun 2011, In : Journal of Neurology, Neurosurgery and Psychiatry. 82, 6, p. 635 - 637 3 p.Research output: Contribution to journal › Article

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's diseaseHollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J-C., Carrasquillo, M. M., Abraham, R., Hamshere, M. L.,Pahwa, J. S., Moskvina, V., Dowzell, K., Jones, N., Stretton, A., Thomas, C., Richards, A., Ivanov, D., Widdowson, C.,Chapman, J., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B.,Lynch, A., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D.,Beaumont, H., Warden, D., Wilcock, G., Love, S., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Hardy, J., Mead, S.,Fox, N. C., Rossor, M., Collinge, J., Maier, W., Jessen, F., Ruether, E., Schuermann, B., Heun, R., Koelsch, H., van denBussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Froelich, L., Hampel, H., Gallacher, J., Huell, M.,Rujescu, D., Giegling, I., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K.,Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A.,Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Muehleisen, T. W.,Noethen, M. M., Moebus, S., Joeckel, K-H., Klopp, N., Wichmann, H-E., Pankratz, V. S., Sando, S. B., Aasly, J. O.,Barcikowska, M., Wszolek, Z. K., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., van Duijn, C. M., Breteler, M. M.B., Ikram, M. A., DeStefano, A. L., Fitzpatrick, A. L., Lopez, O., Launer, L. J., Seshadri, S., Berr, C., Campion, D.,Epelbaum, J., Dartigues, J-F., Tzourio, C., Alperovitch, A., Lathrop, M., Feulner, T. M., Friedrich, P., Riehle, C., Krawczak,M., Schreiber, S., Mayhaus, M., Nicolhaus, S., Wagenpfeil, S., Steinberg, S., Stefansson, H., Stefansson, K., Snaedal, J.,Bjornsson, S., Jonsson, P. V., Chouraki, V., Genier-Boley, B., Hiltunen, M., Soininen, H., Combarros, O., Zelenika, D.,Delepine, M., Bullido, M. J., Pasquier, F., Mateo, I., Frank-Garcia, A., Porcellini, E., Hanon, O., Coto, E., Alvarez, V.,Bosco, P., Siciliano, G., Mancuso, M., Panza, F., Solfrizzi, V., Nacmias, B., Sorbi, S., Bossu, P., Piccardi, P., Arosio, B.,Annoni, G., Seripa, D., Pilotto, A., Scarpini, E., Galimberti, D., Brice, A., Hannequin, D., Licastro, F., Jones, L., Holmans,P. A., Jonsson, T., Riemenschneider, M., Morgan, K., Younkin, S. G., Owen, M. J., O'Donovan, M., Amouyel, P. &Williams, J., May 2011, In : Nature Genetics. 43, 5, p. 429-435 7 p.Research output: Contribution to journal › Article

No association of DPP6 with amyotrophic lateral sclerosis in an Italian populationFogh, I., D'Alfonso, S., Gellera, C., Ratti, A., Cereda, C., Penco, S., Corrado, L., Soraru, G., Castellotti, B., Tiloca,C., Gagliardi, S., Cozzi, L., Lupton, M. K., Ticozzi, N., Mazzini, L., Shaw, C. E., Al-Chalabi, A., Powell, J. & Silani, V., May2011, In : Neurobiology of Aging. 32, 5, p. 966 - 967 2 p.Research output: Contribution to journal › Article

An estimate of amyotrophic lateral sclerosis heritability using twin dataAl-Chalabi, A., Fang, F., Hanby, M. F., Leigh, P. N., Shaw, C. E., Ye, W. & Rijsdijk, F., Dec 2010, In : Journal ofNeurology, Neurosurgery and Psychiatry. 81, 12, p. 1324 - 1326 3 p., N/A.Research output: Contribution to journal › Article

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wideassociation studyShatunov, A., Mok, K., Newhouse, S., Weale, M. E., Smith, B., Vance, C., Johnson, L., Veldink, J. H., van Es, M. A., vanden Berg, L. H., Robberecht, W., Van Damme, P., Hardiman, O., Farmer, A. E., Lewis, C. M., Butler, A. W., Abel, O.,Andersen, P. M., Fogh, I., Silani, V., Chiò, A., Traynor, B. J., Melki, J., Meininger, V., Landers, J. E., McGuffin, P., Glass,

J. D., Pall, H., Leigh, P. N., Hardy, J., Brown, R. H., Powell, J. F., Orrell, R. W., Morrison, K. E., Shaw, P. J., Shaw, C. E. &Al-Chalabi, A., Oct 2010, In : Lancet Neurology. 9, 10, p. 986-94 9 p.Research output: Contribution to journal › Article

The association between ALS and population density: A population based studyScott, K. M., Abhinav, K., Wijesekera, L., Ganesalingam, J., Goldstein, L. H., Janssen, A., Dougherty, A., Willey, E.,Stanton, B. R., Turner, M. R., Ampong, M-A., Sakel, M., Orrell, R., Howard, R., Shaw, C. E., Leigh, P. N. & Al-Chalabi, A.,Oct 2010, In : Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 11, 5, p. 435 - 438 4 p.Research output: Contribution to journal › Article

The sex ratio in amyotrophic lateral sclerosis: A population based studyManjaly, Z. R., Scott, K. M., Abhinav, K., Wijesekera, L., Ganesalingam, J., Goldstein, L. H., Janssen, A., Dougherty, A.,Willey, E., Stanton, B. R., Turner, M. R., Ampong, M-A., Sakel, M., Orrell, R. W., Howard, R., Shaw, C. E., Leigh, P. N. &Al-Chalabi, A., Oct 2010, In : Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 11, 5, p. 439 - 442 4 p.Research output: Contribution to journal › Article

A large genome scan for rare CNVs in amyotrophic lateral sclerosisBlauw, H. M., Al-Chalabi, A., Andersen, P. M., van Vught, P. W. J., Diekstra, F. P., van Es, M. A., Saris, C. G. J., Groen,E. J. N., van Rheenen, W., Koppers, M., van't Slot, R., Strengman, E., Estrada, K., Rivadeneira, F., Hofman, A.,Uitterlinden, A. G., Kiemeney, L. A., Vermeulen, S. H. M., Birve, A., Waibel, S., Meyer, T., Cronin, S., McLaughlin, R. L.,Hardiman, O., Sapp, P. C., Tobin, M. D., Wain, L. V., Tomik, B., Slowik, A., Lemmens, R., Rujescu, D., Schulte, C.,Gasser, T., Brown, R. H., Landers, J. E., Robberecht, W., Ludolph, A. C., Ophoff, R. A., Veldink, J. H. & van den Berg, L.H., 4 Aug 2010, In : Human Molecular Genetics. 19, 20, p. 4091 - 4099 9 p., ddq323.Research output: Contribution to journal › Article

Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone diseaseRio, A., Shaw, C., Willey, E., Ampong, M. -A., Wijesekera, L., Rittman, T., Leigh, P. N., Sidhu, P. S. & Al-Chalabi, A., Aug2010, In : Journal of Human Nutrition and Dietetics. 23, 4, p. 408 - 415 8 p.Research output: Contribution to journal › Article

RNA metabolism and the pathogenesis of motor neuron diseasesLemmens, R., Moore, M. J., Al-Chalabi, A., Brown, R. H. & Robberecht, W., May 2010, In : Trends in Neurosciences. 33, 5, p. 249 - 258 10 p.Research output: Contribution to journal › Literature review

Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's DiseaseJones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R.,Hollingworth, P., Sims, R., Gerrish, A., Pahwa, J. S., Jones, N., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J.,Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S.,Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Mead,S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schuermann, B., van den Bussche, H., Heuser, I., Peters, O.,Kornhuber, J., Wiltfang, J., Dichgans, M., Froelich, L., Hampel, H., Huell, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K.,Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R.,Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Muehleisen, T. W., Noethen, M. M., Moebus, S.,Joeckel, K-H., Klopp, N., Wichmann, H. -E., Ruether, E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Hardy, J.,O'Donovan, M. C., Owen, M. J. & Williams, J., 2010, In : PL o S One . 5, 11, e13950.Research output: Contribution to journal › Article

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility inmale carriers of the-2578AA genotypeLambrechts, D., Poesen, K., Fernandez-Santiago, R., Al-Chalabi, A., Del Bo, R., Van Vught, P. W. J., Khan, S., Marklund,S. L., Brockington, A., van Marion, I., Anneser, J., Shaw, C., Ludolph, A. C., Leigh, N. P., Comi, G. P., Gasser, T., Shaw,P. J., Morrison, K. E., Andersen, P. M., Van den Berg, L. H., Thijs, V., Siddique, T., Robberecht, W. & Carmeliet, P., Dec2009, In : Journal of Medical Genetics. 46, 12, p. 840 - 846 7 p.Research output: Contribution to journal › Article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophiclateral sclerosisvan Es, M. A., Veldink, J. H., Saris, C. G. J., Blauw, H. M., van Vught, P. W. J., Birve, A., Lemmens, R., Schelhaas, H. J.,Groen, E. J. N., Huisman, M. H. B., van der Kooi, A. J., de Visser, M., Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman,

A., Zwarts, M. J., van Doormaal, P. T. C., Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A.,Uitterlinden, A. G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A. C., Glass, J. D., Purcell, S., Cichon, S., Noethen, M.M., Wichmann, H-E., Schreiber, S., Vermeulen, S. H. H. M., Kiemeney, L. A., Wokke, J. H. J., Cronin, S., McLaughlin, R.L., Hardiman, O., Fumoto, K., Pasterkamp, R. J., Meininger, V., Melki, J., Leigh, P. N., Shaw, C. E., Landers, J. E., Al-Chalabi, A., Brown, R. H., Robberecht, W., Andersen, P. M., Ophoff, R. A. & van den Berg, L. H., Oct 2009, In : NatureGenetics. 41, 10, p. 1083 - U53 5 p.Research output: Contribution to journal › Article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's diseaseHarold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K.,Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K.,Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D.,McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N.,Rossor, M., Collinge, J., Maier, W., Jessen, F., Schuermann, B., van den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang,J., Dichgans, M., Froelich, L., Hampel, H., Huell, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny,P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston,G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton,A. B., Guerreiro, R., Muehleisen, T. W., Noethen, M. M., Moebus, S., Joeckel, K-H., Klopp, N., Wichmann, H-E.,Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Oct 2009, In : Nature Genetics. 41, 10, p. 1088-1093 6 p.Research output: Contribution to journal › Article

Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing GroupsGanesalingam, J., Stahl, D., Wijesekera, L., Galtrey, C., Shaw, C. E., Leigh, P. N. & Al-Chalabi, A., 22 Sep 2009, In : PL oS One . 4, 9, e7107.Research output: Contribution to journal › Article

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALSWills, A-M., Cronin, S., Slowik, A., Kasperaviciute, D., Van Es, M. A., Morahan, J. M., Valdmanis, P. N., Meininger, V.,Melki, J., Shaw, C. E., Rouleau, G. A., Fisher, E. M. C., Shaw, P. J., Morrison, K. E., Pamphlett, R., Van den Berg, L. H.,Figlewicz, D. A., Andersen, P. M., Al-Chalabi, A., Hardiman, O., Purcell, S., Landers, J. E. & Brown, R. H., Jul 2009, In :Neurology. 73, 1, p. 16 - 24 9 p.Research output: Contribution to journal › Article

Meta-analysis of linkage studies for Alzheimer's disease-A web resourceButler, A. W., Ng, M. Y. M., Hamshere, M. L., Forabosco, P., Wroe, R., Al-Chalabi, A., Lewis, C. M. & Powell, J. F., Jul2009, In : Neurobiology of Aging. 30, 7, p. 1037 - 1047 11 p., N/A.Research output: Contribution to journal › Article

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateralsclerosisLanders, J. E., Melki, J., Meininger, V., Glass, J. D., van den Berg, L. H., van Es, M. A., Sapp, P. C., van Vught, P. W. J.,McKenna-Yasek, D. M., Blauw, H. M., Cho, T-J., Polak, M., Shi, L., Wills, A-M., Broom, W. J., Ticozzi, N., Silani, V.,Ozoguz, A., Rodriguez-Leyva, I., Veldink, J. H., Ivinson, A. J., Saris, C. G. J., Hosler, B. A., Barnes-Nessa, A., Couture,N., Wokke, J. H. J., Kwiatkowski, T. J., Ophoff, R. A., Cronin, S., Hardiman, O., Diekstra, F. P., Leigh, P. N., Shaw, C. E.,Simpson, C. L., Hansen, V. K., Powell, J. F., Corcia, P., Salachas, F., Heath, S., Galan, P., Georges, F., Horvitz, H. R.,Lathrop, M., Purcell, S., Al-Chalabi, A. & Brown, R. H., 2 Jun 2009, In : Proceedings of the National Academy of Sciencesof the United States of America. 106, 22, p. 9004 - 9009 6 p.Research output: Contribution to journal › Article

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFSHindocha, N., Nabbout, R., Elmslie, F., Makoff, A., Al-Chalabi, A. & Nashef, L., Apr 2009, In : Epilepsia. 50, 4, p. 937 - 942 6 p.Research output: Contribution to journal › Article

Natural history and clinical features of the flail arm and flail leg ALS variantsWijesekera, L. C., Mathers, S., Talman, P., Galtrey, C., Parkinson, M. H., Ganesalingam, J., Willey, E., Ampong, M. A.,Ellis, C. M., Shaw, C. E., Al-Chalabi, A. & Leigh, P. N., 24 Mar 2009, In : Neurology. 72, 12, p. 1087 - 1094 8 p.Research output: Contribution to journal › Article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D.,Wright, P., Ganesalingam, J., Williams, K. L., Tripathi, V., Al-Saraj, S., Al-Chalabi, A., Leigh, P. N., Blair, I. P., Nicholson,G., de Belleroche, J., Gallo, J-M., Miller, C. C. & Shaw, C. E., 27 Feb 2009, In : Science. 323, 5918, p. 1208-11 4 p.Research output: Contribution to journal › Article

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population StudyScott, K. M., Abhinav, K., Stanton, B. R., Johnston, C., Turner, M. R., Ampong, M-A., Sakel, M., Orrell, R. W., Howard, R.,Shaw, C. E., Leigh, P. N. & Al-Chalabi, A., Feb 2009, In : Neuroepidemiology. 32, 2, p. 81 - 88 8 p.Research output: Contribution to journal › Article

SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosisWicks, P., Abrahams, S., Papps, B., Al-Chalabi, A., Shaw, C. E., Leigh, P. N. & Goldstein, L. H., Feb 2009, In : Journal ofNeurology. 256, 2, p. 234 - 241 8 p.Research output: Contribution to journal › Article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degenerationSimpson, C. L., Lemmens, R., Miskiewicz, K., Broom, W. J., Hansen, V. K., van Vught, P. W. J., Landers, J. E., Sapp, P.,Van Den Bosch, L., Knight, J., Neale, B. M., Turner, M. R., Veldink, J. H., Ophoff, R. A., Tripathi, V. B., Beleza, A., Shah,M. N., Proitsi, P., Van Hoecke, A., Carmeliet, P., Horvitz, H. R., Leigh, P. N., Shaw, C. E., van den Berg, L. H., Sham, P.C., Powell, J. F., Verstreken, P., Brown, R. H., Robberecht, W. & Al-Chalabi, A., Feb 2009, In : Human MolecularGenetics. 18, 3, p. 472 - 481 10 p.Research output: Contribution to journal › Article

Interaction between PON1 and population density in amyotrophic lateral sclerosisDiekstra, F. R., Beleza-Meireles, A., Leigh, N. R., Shaw, C. E. & Al-Chalabi, A., 28 Jan 2009, In : Neuroreport. 20, 2, p.186 - 190 5 p.Research output: Contribution to journal › Article

Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: The NNIPPS StudyNNIPPS Study Group, Bensimon, G., Ludolph, A., Agid, Y., Vidailhet, M., Payan, C., Leigh, P. N., Ludolph, A. C., Dib, M.,Lacomblez, L., Burn, D., Landwehrmeyer, B., Asselain, B., Allain, H., Chadwick, D., Perret, J. E., Warlow, C., Ben-Shlomo,Y., Bonnet, A. M., Fermanian, J., Verny, M., Moore, P., Tranchant, C., Borg, M., McCrone, P., Durif, F., Evans, A., Viallet,F., Verin, M., Deasy, N., Jarosz, J., Al-Sarraj, S., Brown, R., Al-Chalabi, A., Wood, N., Dougherty, A., Murphy, C., Schulz,J. B., Chaudhuri, K. R., Heaney, D., Blain, C., Azam, S., Williams, V., Isaacs, J., Smallman, C., Stanton, B., Dittner, A.,Donnellan, C., Secker, D., Langman, A. & Lomax, C., 1 Jan 2009, In : Brain. 132, 1, p. 156-171 16 p.Research output: Contribution to journal › Article

Genetic Variants of the alpha-Synuclein Gene SNCA Are Associated with Multiple System AtrophyAl-Chalabi, A., Duerr, A., Wood, N. W., Parkinson, M. H., Camuzat, A., Hulot, J-S., Morrison, K. E., Renton, A., Sussmuth,S. D., Landwehrmeyer, B. G., Ludolph, A., Agid, Y., Brice, A., Leigh, P. N. & Bensimon, G., 2009, In : PL o S One . 4, 9,e7114.Research output: Contribution to journal › Article

Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectivesBeleza-Meireles, A. & Al-Chalabi, A., 2009, In : Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 10, 1,p. 1 - 14 14 p.Research output: Contribution to journal › Literature review

Genetics of Complex Human Diseases: A Laboratory ManualAl-Chalabi, A. (ed.) & Almasy, L. (ed.), 2009, Cold Spring Harbour Laboratory Press. 220 p.Research output: Book/Report › Book

Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104patients in a single institutionLewis, D., Ampong, M-A., Rio, A., Willey, E., Johnson, J., Shaw, C. E., Ellis, C. M., Al-Chalabi, A., Leigh, P. N. & Sidhu, P.S., 2009, In : European Radiology. 19, 7, p. 1763 - 1771 9 p.

Research output: Contribution to journal › Article

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadicamyotrophic lateral sclerosisSabatelli, M., Eusebi, F., Al-Chalabi, A., Conte, A., Madia, F., Luigetti, M., Mancuso, I., Limatola, C., Trettel, F., Sobrero,F., Di Angelantonio, S., Grassi, F., Di Castro, A., Moriconi, C., Fucile, S., Lattante, S., Marangi, G., Murdolo, M., Orteschi,D., Del Grande, A., Tonali, P., Neri, G. & Zollino, M., 2009, In : Human Molecular Genetics. 18, 20, p. 3997 - 4006 10 p.Research output: Contribution to journal › Article

The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Studyand Comparison with Published LociWain, L. V., Pedroso, I., Landers, J. E., Breen, G., Shaw, C. E., Leigh, P. N., Brown, R. H., Tobin, M. D. & Al-Chalabi, A.,2009, In : PL o S One . 4, 12, e8175.Research output: Contribution to journal › Article

New VAPB deletion variant and exclusion of VAPB mutations in familial ALSLanders, J. E., Leclerc, A. L., Shi, L., Virkud, A., Cho, T., Maxwell, M. M., Henry, A. F., Polak, M., Glass, J. D.,Kwiatkowski, T. J., Al-Chalabi, A., Shaw, C. E., Leigh, P. N., Rodriguez-Leyza, I., Kenna-Yasek, D., Sapp, P. C. & Brown,R. H., Apr 2008, In : Neurology. 70, 14, p. 1179 - 1185 7 p.Research output: Contribution to journal › Article

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisSreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti,E., Baralle, F., de Belleroche, J., Mitchell, J. D., Leigh, P. N., Al-Chalabi, A., Miller, C. C., Nicholson, G. & Shaw, C. E., 21Mar 2008, In : Science. 319, 5870, p. 1668-1672 5 p.Research output: Contribution to journal › Article

The Brain: A Beginner's GuideAl-Chalabi, A., Turner, M. & Delamont, R. S., 25 Feb 2008, Oxford: Oneworld Publications. 192 p. (Beginner's Guides)Research output: Book/Report › Book

Molecular Insights and Therapeutic Targets in Amyotrophic Lateral SclerosisTripathi, V. B. & Al-Chalabi, A., Feb 2008, In : Cns & Neurological Disorders-Drug Targets. 7, 1, p. 11 - 19 9 p.Research output: Contribution to journal › Literature review

SOD1(A4V)-mediated ALS: Absence of a closely linked modifier gene and origination in AsiaBroom, W. J., Johnson, D. V., Auwarter, K. E., Iafrate, A. J., Russ, C., Al-Chalabi, A., Sapp, P. C., Kenna-Yasek, D.,Andersen, P. M. & Brown, R. H., 17 Jan 2008, In : Neuroscience Letters. 430, 3, p. 241 - 245 5 p.Research output: Contribution to journal › Article

Birth order and the genetics of amyotrophic lateral sclerosisVivekananda, U., Johnston, C., Kenna-Yasek, D., Shaw, C. E., Leigh, P. N., Brown, R. H. & Al-Chalabi, A., Jan 2008, In :Journal of Neurology. 255, 1, p. 99 - 102 4 p.Research output: Contribution to journal › Article

Quantification of reverse transcriptase in ALS and elimination of a novel retroviral candidateMcCormick, A. L., Brown, R. H., Cudkowicz, M. E., Al-Chalabi, A. & Garson, J. A., Jan 2008, In : Neurology. 70, 4, p. 278 -283 6 p.Research output: Contribution to journal › Article

A common haplotype within the PON1 promoter region is associated with sporadic ALSLanders, J. E., Shi, L., Cho, T. J., Glass, J. D., Shaw, C. E., Leigh, P. N., Diekstra, F., Polak, M., Rodriguez-Leyva, I.,Niemann, S., Traynor, B. J., Kenna-Yasek, D., Sapp, P. C., Al-Chalabi, A., Wills, A. M. A. & Brown, R. H., 2008, In :Amyotrophic Lateral Sclerosis (United Kingdom). 9, 5, p. 306 - 314 9 p.Research output: Contribution to journal › Article

ALSOD: The Amyotrophic Lateral Sclerosis Online DatabaseWroe, R., Butler, A. W. L., Andersen, P. M., Powell, J. F. & Al-Chalabi, A., 2008, In : Amyotrophic Lateral Sclerosis (UnitedKingdom). 9, 4, p. 249 - 250 2 p.Research output: Contribution to journal › Article

Association study on glutathione S-transferase omega 1 and 2 and familial ALSDe Giessen, E. V., Fogh, I., Gopinath, S., Smith, B., Hu, X., Powell, J., Andersen, P., Nicholson, G., Al Chalabi, A. &Shaw, C. E., 2008, In : Amyotrophic Lateral Sclerosis (United Kingdom). 9, 2, p. 81 - 84 4 p.Research output: Contribution to journal › Article

Two cases of sudden unexpected death in epilepsy in a GEFS plus family with an SCN1A mutationHindocha, N., Nashef, L., Elmslie, F., Birch, R., Zuberi, S., Al-Chalabi, A., Crotti, L., Schwartz, P. J. & Makoff, A., 2008, In :Epilepsia. 49, 2, p. 360 - 365 6 p.Research output: Contribution to journal › Letter

The heterogeneity of amyotrophic lateral sclerosis: A possible explanation of treatment failureBeghi, E., Mennini, T., Bendotti, C., Bigini, P., Logroscino, G., Chio, A., Hardiman, O., Mitchell, D., Swingler, R., Traynor,B. J. & Al-Chalabi, A., Dec 2007, In : Current Medicinal Chemistry. 14, 30, p. 3185 - 3200 16 p.Research output: Contribution to journal › Literature review

Amyotrophic lateral sclerosis in south-east England: A population-based study - The south-east England register foramyotrophic lateral sclerosis (SEALS registry)Abhinav, K., Stanton, B., Johnston, C., Hardstaff, J., Orrell, R. W., Howard, R., Clarke, J., Sakel, M., Ampong, M. A.,Shaw, C. E., Leigh, P. N. & Al-Chalabi, A., Nov 2007, In : Neuroepidemiology. 29, 1-2, p. 44 - 48 5 p.Research output: Contribution to journal › Article

Large-scale pathways-based association study in amyotrophic lateral sclerosis.Kasperaviciute, D., Weale, ME., Shianna, KV., Banks, GT., Simpson, CL., Hansen, VK., Turner, MR., Shaw, CE., Al-Chalabi, A., Pall, HS., Goodall, EF., Morrison, KE., Orrell, RW., Beck, M., Jablonka, S., Sendtner, M., Brockington, A.,Ince, PG., Hartley, J., Nixon, H., Shaw, PJ., Schiavo, G., Wood, NW., Goldstein, DB. & Fisher, EMC., Sep 2007, In : Brain. 130, 9, p. 2292 - 2301 10 p.Research output: Contribution to journal › Article

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familialityFogh, I., Rijsdijk, F., Andersen, P. M., Sham, P. C., Knight, J., Neale, B., Kenna-Yasek, D., Silani, V., Brown, R. H.,Powell, J. F. & Al-Chalabi, A., Aug 2007, In : NEUROGENETICS. 8, 3, p. 235 - 236 2 p.Research output: Contribution to journal › Letter

Cortical involvement in four cases of primary lateral sclerosis using [C-11]-flumazenil PETTurner, M. R., Hammers, A., Al-Chalabi, A., Shaw, C. E., Andersen, P. M., Brooks, D. J. & Leigh, P. N., Aug 2007, In :Journal of Neurology. 254, 8, p. 1033 - 1036 4 p.Research output: Contribution to journal › Article

The multidisciplinary clinic, quality of life and survival in motor neuron diseaseAl-Chalabi, A., Aug 2007, In : Journal of Neurology. 254, 8, p. 1118 - 1118 1 p.Research output: Contribution to journal › Letter

Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?Isaacs, J. D., Dean, A. F., Shaw, C. E., Al-Chalabi, A., Mills, K. R. & Leigh, P. N., Jul 2007, In : Journal of Neurology,Neurosurgery and Psychiatry. 78, 7, p. 750 - 753 4 p.Research output: Contribution to journal › Article

Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs sporadic ALSTurner, M. R., Rabiner, E. A., Al-Chalabi, A., Shaw, C. E., Brooks, D. J., Leigh, P. N. & Andersen, P. M., Apr 2007, In :Neurology. 68, 15, p. 1233 - 1235 3 p.Research output: Contribution to journal › Article

Three soccer playing friends with simultaneous amyotrophic lateral sclerosisWicks, P., Ganesalingham, J., Collin, C., Prevett, M., Leigh, N. P. & Al-Chalabi, A., 2007, In : Amyotrophic LateralSclerosis and Other Motor Neuron Disorders. 8, 3, p. 177 - 179 3 p.Research output: Contribution to journal › Article

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosisTurner, M. R., Hammers, A., Allsop, J., Al-Chalabi, A., Shaw, C. E., Brooks, D. J., Leigh, P. N. & Andersen, P. M., 2007,In : Amyotrophic Lateral Sclerosis (United Kingdom). 8, 6, p. 343 - 347 5 p.Research output: Contribution to journal › Article

Amyotrophic lateral sclerosis in an urban setting - A population based study of inner city LondonJohnston, C. A., Stanton, B. R., Turner, M. R., Gray, R., Blunt, A. H. M., Butt, D., Ampong, M. A., Shaw, C. E., Leigh, P. N.& Al-Chalabi, A., Dec 2006, In : Journal of Neurology. 253, 12, p. 1642 - 1643 2 p.Research output: Contribution to journal › Letter

Amyotrophic lateral sclerosis as a complex genetic diseaseSimpson, C. L. & Al-Chalabi, A., Nov 2006, In : BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1762, 11-12, p. 973 - 985 13 p.Research output: Contribution to journal › Literature review

Susceptibility genes in sporadic ALS - Separating the wheat from the chaff by international collaborationShaw, C. E. & Al-Chalabi, A., Sep 2006, In : Neurology. 67, 5, p. 738 - 739 2 p.Research output: Contribution to journal › Editorial

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.Vance, C., Al-Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Kusters, B.,Troost, D., Baas, F., de Jong, V. & Shaw, C. E., Apr 2006, In : Brain. 129, 4, p. 868 - 876 9 p.Research output: Contribution to journal › Article

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementiaMorita, M., Al-Chalabi, A., Andersen, P. M., Hosler, B., Sapp, P., Englund, E., Mitchell, J. E., Habgood, J. J., deBelleroche, J., Xi, J. & Brown, R. H., Mar 2006, In : Neurology. 66, 6, p. 839 - 844 6 p.Research output: Contribution to journal › Article

Survival of patients with ALS following institution of enteral feeding is related to pre-procedure oximetry: A retrospectivereview of 98 patients in a single centreShaw, A. S., Ampong, M. A., Rio, A., Al-Chalabi, A., Sellars, M. E. K., Ellis, C., Shaw, C. E., Leigh, P. N. & Sidhu, P. S.,Mar 2006, In : Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 7, 1, p. 16 - 21 6 p.Research output: Contribution to journal › Article

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian populationAgnes, L., Nishimura, A. L., Al-Chalabi, A. & Zatz, M., Dec 2005, In : Human Genetics. 118, 3-4, p. 499 - 500 2 p.Research output: Contribution to journal › Article

Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS.Turner, M. R., Osei-Lah, A. D., Hammers, A., Al-Chalabi, A., Shaw, C. E., Andersen, P. M., Brooks, D. J., Leigh, P. N. &Mills, K. R., Sep 2005, In : Journal of Neurology, Neurosurgery and Psychiatry. 76, 9, p. 1279 - 1285 7 p.Research output: Contribution to journal › Article

Comparison of two percutaneous radiological gastrostomy tubes in the nutritional management of ALS patients.Rio, A., Ampong, M. A., Turner, M. R., Shaw, A. S., Al-Chalabi, A., Shaw, C. E., Leigh, P. N. & Sidhu, P. S., Sep 2005, In :Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 6, 3, p. 177 - 181 5 p.Research output: Contribution to journal › Article

Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C] flumazenil PETTurner, M. R., Hammers, A., Al-Chalabi, A., Shaw, C. E., Andersen, P. M., Brooks, D. J. & Leigh, P. N., Jun 2005, In :Brain. 128, 6, p. 1323 - 1329 7 p.Research output: Contribution to journal › Article

Mills' and other isolated upper motor neurone syndromes: in vivo study with 11C-(R)-PK11195 PETTurner, M. R., Gerhard, A., Al-Chalabi, A., Shaw, C. E., Hughes, R. A. C., Banati, R. B., Brooks, D. J. & Leigh, P. N., Jun2005, In : Journal of Neurology, Neurosurgery and Psychiatry. 76, 6, p. 871 - 874 4 p.Research output: Contribution to journal › Article

Genotyping DNA pools on microarrays: Tackling the QTL problem of large samples and large numbers of SNPsMeaburn, E., Butcher, L. M., Liu, L., Fernandes, C., Hansen, V., Al-Chalabi, A., Plomin, R., Craig, I. & Schalkwyk, L. C., 5Apr 2005, In : BMC GENOMICS. 6, 52.Research output: Contribution to journal › Article

[11C] - WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALSTurner, M. R., Rabiner, E. A., Hammers, A., Al-Chalabi, A., Grasby, P. M., Shaw, C. E., Brooks, D. J. & Leigh, P. N., Apr2005, In : Brain. 128, 4, p. 896 - 905 10 p.Research output: Contribution to journal › Article

Trouble on the pitch: are professional football players at increased risk of developing amyotrophic lateral sclerosis?Al-Chalabi, A. & Leigh, P. N., Mar 2005, In : Brain. 128, 3, p. 451 - 453 3 p.Research output: Contribution to journal › Editorial

Detection of serum reverse transcriptase activity in patients with ALS and unaffected blood relativesSteele, A. J., Al-Chalabi, A., Ferrente, K., Cudkowicz, M. E., Brown, R. H. & Garson, J. A., 8 Feb 2005, In : Neurology. 64,3, p. 454 - 458 5 p.Research output: Contribution to journal › Article

A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarraysSimpson, C. L., Knight, J., Butcher, L. M., Hansen, V. K., Meaburn, E., Schalkwyk, L. C., Craig, I. W., Powell, J. F., Sham,P. C. & Al-Chalabi, A., 2005, In : Nucleic Acids Research. 33, 3, p. e25 5 p.Research output: Contribution to journal › Article

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALSBroom, W. J., Parton, M. J., Vance, C., Russ, C., Andersen, P. M., Hansen, V., Leigh, P. N., Powell, J. F., Al-Chalabi, A. &Shaw, C. E., 28 Dec 2004, In : Neurology. 63, 12, p. 2419 - 2422 4 p.Research output: Contribution to journal › Article

MaGIC: a program to generate targeted marker sets for genome-wide association studiesSimpson, C. L., Hansen, V. K., Sham, P. C., Collins, A., Powell, J. F. & Al-Chalabi, A., Dec 2004, In : Biotechniques. 37, 6, p. 996 - 999 4 p.Research output: Contribution to journal › Article

Genotyping pooled DNA on microarrays: A systematic genome screen of thousands of SNPs in large samples to detectQTLs for complex traitsButcher, L. M., Meaburn, E., Liu, L., Fernandes, C., Hill, L., Al-Chalabi, A., Plomin, R., Schalkwyk, L. & Craig, I. W., Sep2004, In : Behavior Genetics. 34, 5, p. 549 - 555 7 p.Research output: Contribution to journal › Article

The management of motor neurone diseaseLeigh, P. N., Abrahams, S., Al-Chalabi, A., Ampong, M. A., Goldstein, L. H., Johnson, J., Lyall, R., Moxham, J., Mustfa, N.,Rio, A., Shaw, C., Willey, E. & King's MND Care Research Team, Dec 2003, In : Journal of Neurology, Neurosurgery andPsychiatry. 74, 4, p. 32 - 47 16 p.Research output: Contribution to journal › Article

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16qRuddy, D. M., Parton, M. J., Al-Chalabi, A., Lewis, C. M., Vance, C., Smith, B. N., Leigh, P. N., Powell, J. F., Siddique, T.,Meyjes, E. P., Baas, F., De Jong, V. & Shaw, C. E., 1 Aug 2003, In : American Journal of Human Genetics. 73, 2, p. 390 -396 7 p.Research output: Contribution to journal › Article

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic deathLambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S. L., Wyns, S., Thijs, V.,Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., Musson, R., Hansen, V., Beckman, L., Adolfsson, R., Singh Pall,H., Prats, H., Vermeire, S., Rutgeerts, P., Katayama, S., Awata, T., Leigh, N., Lang-Lazdunski, L., Dewerchin, M., Shaw,C., Moons, L., Vlietinck, R., Morrison, K. E., Robberecht, W., Van Broeckhoven, C., Collen, D., Andersen, P. M. &Carmeliet, P., 1 Aug 2003, In : Nature Genetics. 34, 4, p. 383 - 394 12 p.Research output: Contribution to journal › Article

Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosisAl-Chalabi, A., Hansen, V. K., Simpson, C. L., Xi, J., Hosler, B. A., Powell, J. F., McKenna-Yasek, D., Shaw, C. E., Leigh,P. N. & Brown, R. H., Aug 2003, In : NEUROGENETICS. 4, 4, p. 221 - 222 2 p.Research output: Contribution to journal › Letter

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosisAl-Chalabi, A., Scheffler, M. D., Smith, B. N., Parton, M. J., Cudkowicz, M. E., Andersen, P. M., Hayden, D. L., Hansen, V.K., Turner, M. R., Shaw, C. E., Leigh, P. N. & Brown, R. H., 1 Jul 2003, In : Annals of Neurology. 54, 1, p. 130 - 134 5 p.Research output: Contribution to journal › Article

Prolonged survival in motor neuron disease: a descriptive study of the King's database 1990-2002Turner, M. R., Parton, M. J., Shaw, C. E., Leigh, P. N. & Al-Chalabi, A., 1 Jul 2003, In : Journal of Neurology,Neurosurgery and Psychiatry. 74, 7, p. 995 - 997 3 p.Research output: Contribution to journal › Article

Riluzole and motor neurone disease.Turner, M. R., Al-Chalabi, A., Shaw, C. E. & Leigh, P. N., Jun 2003, In : PRACTICAL NEUROLOGY. 3, 3, p. 160 - 169 10p.Research output: Contribution to journal › Article

Neurofilaments and neurological diseaseAl-Chalabi, A. & Miller, C. C. J., 1 Apr 2003, In : Bioessays. 25, 4, p. 346 - 355 10 p.Research output: Contribution to journal › Literature review

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting diseasemodifier in the recessive haplotypeParton, M. J., Broom, W., Andersen, P. M., Al-Chalabi, A., Leigh, P. N., Powell, J. F., Shaw, C. E. & D90A SOD1 ALSConsortium, Dec 2002, In : Human Mutation. 20, 6, p. 473- 473.Research output: Contribution to journal › Article

Prognostic modelling of therapeutic interventions in amyotrophic lateral sclerosisTurner, M. R., Bakker, M., Sham, P., Shaw, C. E., Leigh, P. N. & Al-Chalabi, A., 2002, In : Amyotrophic Lateral Sclerosisand Other Motor Neuron Disorders. 3, 1, p. 15 - 21 7 p.Research output: Contribution to journal › Article

Progress in the pathogenesis of amyotrophic lateral sclerosisShaw, C. E., al-Chalabi, A. & Leigh, N., Jan 2001, In : CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS. 1, 1,p. 69 - 76 8 p.Research output: Contribution to journal › Article

Detection of reverse transcriptase activity in the serum of patients with motor neurone diseaseAndrews, W. D., Tuke, P. W., Al-Chalabi, A., Gaudin, P., Ijaz, S., Parton, M. J. & Garson, J. A., 2000, In : Journal ofMedical Virology. 61, 4, p. 527 - 532 6 p.

Research output: Contribution to journal › Article

Extramotor involvement in ALS: PET studies with the GABA(A) ligand [C-11]flumazenilLloyd, C. M., Richardson, M. P., Brooks, D. J., Al-Chalabi, A. & Leigh, P. N., 2000, In : Brain. 123, p. 2289 - 2296 8 p.Research output: Contribution to journal › Article

Recent advances in amyotrophic lateral sclerosis. [Review] [82 refs]Al-Chalabi, A. & Leigh, P. N., 2000, In : Current Opinion in Neurology. 13, 4, p. 397 1 p.Research output: Contribution to journal › Article

No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferaseHoda, F., Nicholl, D., Bennett, P., Arranz, M., Aitchison, K. J., Al-Chalabi, A., Kunugi, H., Vallada, H., Leigh, P. N.,Chaudhuri, K. R. & Collier, D. A., 21 Nov 1996, In : Biochemical and Biophysical Research Communications. 228, 3, p.780-784 5 p.Research output: Contribution to journal › Article

The above report is produced using the following setupOrdered by: null