Deliverables Documents, reports (1) Approval from IRBs and Regulatory Agencies All approval documents to start patient recruitment. Demonstrators, pilots, prototypes (1) Corporate communication tools provided Logo, brochure, public website Publications Peer reviewed articles (23) The involvement of regulatory T cells in amyotrophic lateral sclerosis and their therapeutic potential Author(s): I. Giovannelli, P. Heath, P. J. Shaw, J. Kirby Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 21/5-6, 2020, Page(s) 435-444, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.1080/21678421.2020.1752246 A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis Author(s): Daniel Bean; Daniel Bean; Ammar Al-Chalabi; Ammar Al-Chalabi; Richard Dobson; Richard Dobson; Alfredo Iacoangeli Published in: Genes, Vol 11, Iss 668, p 668 (2020), Issue 20734425, 2020, ISSN 2073-4425 Publisher: Multidisciplinary Digital Publishing Institute (MDPI) DOI: 10.3390/genes11060668 Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics Author(s): Arvin Behzadi; Fani Pujol-Calderón; Anton Tjust; Anna Wuolikainen; Kina Höglund; Kina Höglund; Karin Forsberg; Erik Portelius; Erik Portelius; Kaj Blennow; Kaj Blennow; Henrik Zetterberg; Peter M. Andersen Published in: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021), Issue 20452322, 2021, ISSN 2045-2322 Publisher: Nature Publishing Group DOI: 10.1038/s41598-021-01499-6 Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis Author(s): Ahmad Al Khleifat; Alfredo Iacoangeli; Joke J. F. A. van Vugt; Harry Bowles; Matthieu Moisse; Ramona A. J. Zwamborn; Rick A. A. van der Spek; Aleksey Shatunov; Johnathan Cooper-Knock; Simon Topp; Ross Byrne; Cinzia Gellera; Victoria López; Ashley R. Jones; Sarah Opie-Martin; Atay Vural; Yolanda Campos; Wouter van Rheenen; Brendan Kenna; Kristel R. Van Eijk; Kevin Kenna; Markus Weber; Bradley Smit Published in: NPJ Genomic Medicine, Issue 20567944, 2022, ISSN 2056-7944 Publisher: Springer Nature DOI: 10.1038/s41525-021-00267-9 DGLinker: flexible knowledge-graph prediction of disease–gene associations Author(s): Jiajing Hu; Rosalba Lepore; Richard Dobson; Richard Dobson; Ammar Al-Chalabi; Ammar Al-Chalabi; Daniel Bean; Daniel Bean; Alfredo Iacoangeli; Alfredo Iacoangeli Published in: Nucleic Acids Research, Issue 03051048, 2021, ISSN 0305-1048 Publisher: Oxford University Press DOI: 10.1093/nar/gkab449 Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial Author(s): William Camu, Marius Mickunas, Jean-Luc Veyrune, Christine Payan, Cecilia Garlanda, Massimo Locati, Raul Juntas-Morales, Nicolas Pageot, Andrea Malaspina, Ulf Andreasson, Janine Kirby, Carey Suehs, Safa Saker, Christophe Masseguin, John De Vos, Henrik Zetterberg, Pamela J Shaw, Ammar Al-Chalabi, P Nigel Leigh, Timothy Tree, Gilbert Bensimon Published in: EBioMedicine, Issue 59, 2020, Page(s) 102844, ISSN 2352-3964 Publisher: Elsevier BV DOI: 10.1016/j.ebiom.2020.102844 The genetics of amyotrophic lateral sclerosis: current insights Author(s): Janine Kirby, Afnan Al Sultan, Rachel Waller, Paul Heath Published in: Degenerative Neurological and Neuromuscular Disease, 2016, Page(s) 49, ISSN 1179-9900 Publisher: Dove Press DOI: 10.2147/dnnd.s84956 A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK Author(s): Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R. Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Katie Sidle, Richard W. Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al-Chalabi Published in: Brain, Issue 140/6, 2017, Page(s) 1611-1618, ISSN 0006-8950 Publisher: Oxford University Press DOI: 10.1093/brain/awx082 Genetic testing in ALS Author(s): Alice Vajda, Russell L. McLaughlin, Mark Heverin, Owen Thorpe, Sharon Abrahams, Ammar Al-Chalabi, Orla Hardiman Published in: Neurology, Issue 88/10, 2017, Page(s) 991-999, ISSN 0028-3878 Publisher: Lippincott Williams & Wilkins Ltd. DOI: 10.1212/WNL.0000000000003686 Detection of long repeat expansions from PCR-free whole-genome sequence data Author(s): Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan H. Johnson, Zoya Kingsbury, Sean J. Humphray, Raymond D. Schellevis, William J. Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H.P. Tazelaar, Michael A. van Es, Russell McLaughlin, William Sproviero, Aleksey Sha Published in: Genome Research, Issue 27/11, 2017, Page(s) 1895-1903, ISSN 1088-9051 Publisher: Cold Spring Harbor Laboratory Press DOI: 10.1101/gr.225672.117 Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study Author(s): Ton Fang, Ahmad Al Khleifat, Jacques-Henri Meurgey, Ashley Jones, P Nigel Leigh, Gilbert Bensimon, Ammar Al-Chalabi Published in: The Lancet Neurology, Issue 17/5, 2018, Page(s) 416-422, ISSN 1474-4422 Publisher: The Lancet Publishing Group DOI: 10.1016/S1474-4422(18)30054-1 Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases Author(s): Jason A. Chen, Zhongbo Chen, Hyejung Won, Alden Y. Huang, Jennifer K. Lowe, Kevin Wojta, Jennifer S. Yokoyama, Gilbert Bensimon, P. Nigel Leigh, Christine Payan, Aleksey Shatunov, Ashley R. Jones, Cathryn M. Lewis, Panagiotis Deloukas, Philippe Amouyel, Christophe Tzourio, Jean-Francois Dartigues, Albert Ludolph, Adam L. Boxer, Jeff M. Bronstein, Ammar Al-Chalabi, Daniel H. Geschwind, Giovanni Cop Published in: Molecular Neurodegeneration, Issue 13/1, 2018, ISSN 1750-1326 Publisher: BioMed Central DOI: 10.1186/s13024-018-0270-8 The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison Author(s): Sarah Martin, Emma Trevor-Jones, Sabyha Khan, Keelan Shaw, Deepti Marchment, Anna Kulka, Catherine E Ellis, Rachel Burman, Martin R. Turner, Liam Carroll, Leah Mursaleen, P. Nigel Leigh, Christopher E. Shaw, Neil Pearce, Daniel Stahl, Ammar Al-Chalabi Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 18/7-8, 2017, Page(s) 569-575, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.1080/21678421.2017.1349151 Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb Author(s): Zhongbo Chen, Kuang Lin, Jeffrey D. Macklis, Ammar Al-Chalabi Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 18/3-4, 2017, Page(s) 175-181, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.1080/21678421.2016.1257024 ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function Author(s): Martina de Majo, Simon D. Topp, Bradley N. Smith, Agnes L. Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L.M.A. ten Asbroek, Kevin P. Kenna, Nicola Ticozzi, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen E. Morrison, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Published in: Neurobiology of Aging, Issue 71, 2018, Page(s) 266.e1-266.e10, ISSN 0197-4580 Publisher: Elsevier BV DOI: 10.1016/j.neurobiolaging.2018.06.015 Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis Author(s): Jeremy A. Garson, Louise Usher, Ammar Al-Chalabi, Jim Huggett, Edmund F. Day, Adele L. McCormick Published in: Acta Neuropathologica Communications, Issue 7/1, 2019, ISSN 2051-5960 Publisher: BioMed Central DOI: 10.1186/s40478-019-0698-2 Telomere length is greater in ALS than in controls: a whole genome sequencing study Author(s): Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Ton Fang, William Sproviero, Ashley R. Jones, Sarah Opie-Martin, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, John F. Powell, Richard Dobson, Steven J. Newhouse, Ammar Al-Chalabi Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Issue 20/3-4, 2019, Page(s) 229-234, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.1080/21678421.2019.1586951 DNAscan: personal computer compatible NGS analysis, annotation and visualisation Author(s): A. Iacoangeli, A. Al Khleifat, W. Sproviero, A. Shatunov, A. R. Jones, S. L. Morgan, A. Pittman, R. J. Dobson, S. J. Newhouse, A. Al-Chalabi Published in: BMC Bioinformatics, Issue 20/1, 2019, ISSN 1471-2105 Publisher: BioMed Central DOI: 10.1186/s12859-019-2791-8 C9orf72 intermediate expansions of 24–30 repeats are associated with ALS Author(s): Alfredo Iacoangeli, Ahmad Al Khleifat, Ashley R. Jones, William Sproviero, Aleksey Shatunov, Sarah Opie-Martin, Karen E. Morrison, Pamela J. Shaw, Christopher E. Shaw, Isabella Fogh, Richard J. Dobson, Stephen J. Newhouse, Ammar Al-Chalabi Published in: Acta Neuropathologica Communications, Issue 7/1, 2019, ISSN 2051-5960 Publisher: BioMed Central DOI: 10.1186/s40478-019-0724-4 Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020–2116 Author(s): Alison Gowland; Sarah Opie-Martin; Kirsten M. Scott; Ashley R. Jones; Puja Mehta; Christine J. Batts; C M Ellis; P. Nigel Leigh; Christopher Shaw; Jemeen Sreedharan; Ammar Al-Chalabi Published in: 2167-9223, Issue 21678421, 2019, ISSN 2167-8421 Publisher: Informa Healthcare DOI: 10.6084/m9.figshare.7969733.v1 Elongator subunit 3 (ELP3) modifies ALS through tRNA modification Author(s): André Bento-Abreu; Gunilla Jäger; Bart Swinnen; Laura Rué; Stijn Hendrickx; Ashley R. Jones; Kim A. Staats; Ines Taes; Caroline Eykens; Annelies Nonneman; Rik Nuyts; Mieke Timmers; Lara Silva; Alain Chariot; Laurent Nguyen; John Ravits; Robin Lemmens; Deirdre Cabooter; Ludo Van Den Bosch; Philip Van Damme; Ammar Al-Chalabi; Anders S. Byström; Wim Robberecht Published in: Bento-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 2018 , ' Elongator subunit 3 (ELP3) modifies ALS through tRNA modification, Issue 09646906, 2018, ISSN 0964-6906 Publisher: Oxford University Press DOI: 10.1093/hmg/ddy043 Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’ Author(s): Roaya Khalaf; Sarah Martin; C M Ellis; Rachel Burman; Jemeen Sreedharan; Christopher Shaw; P. Nigel Leigh; Martin R Turner; Ammar Al-Chalabi Published in: 0022-3050, Issue 00223050, 2019, ISSN 0022-3050 Publisher: BMJ Publishing Group DOI: 10.1136/jnnp-2018-319894 Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2 Author(s): Ilaria Giovannelli, Nadhim Bayatti, Abigail Brown, Dennis Wang, Marius Mickunas, William Camu, Jean-Luc Veyrune, Christine Payan, Cecilia Garlanda, Massimo Locati, Raul Juntas-Morales, Nicolas Pageot, Andrea Malaspina, Ulf Andreasson, Carey Suehs, Safa Saker, Christophe Masseguin, John de Vos, Henrik Zetterberg, Ammar Al-Chalabi, P Nigel Leigh, Timothy Tree, Gilbert Bensimon, Paul R Heath, Pamela Published in: Brain Communications, 2021, ISSN 2632-1297 Publisher: Oxford University Press DOI: 10.1093/braincomms/fcab141 Other (2) Occasional essay: Upper motor neuron syndrome in amyotrophic lateral sclerosis. Author(s): Michael Swash; Michael Swash; David Burke; Martin R Turner; Julian Grosskreutz; P. Nigel Leigh; Mamede deCarvalho; Matthew C. Kiernan; Matthew C. Kiernan Published in: 0022-3050, 2019 Publisher: BMJ DOI: 10.1136/jnnp-2019-321938 Retrotransposons in the development and progression of amyotrophic lateral sclerosis Author(s): Savage, Abigail L; Schumann, Gerald G; Breen, Gerome; Bubb, Vivien J; Al-Chalabi, Ammar; Quinn, John P Published in: Journal of Neurology, Neurosurgery, and Psychiatry, 2018 Publisher: BMJ Searching for OpenAIRE data... There was an error trying to search data from OpenAIRE No results available
