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  1. Opie-Martin, Sarah [Author]; Iacoangeli, Alfredo [Author]; Topp, Simon D. [Author]; Abel, Olubunmi [Author]; Mayl, Keith [Author]; Mehta, Puja R. [Author]; Shatunov, Aleksey [Author]; Fogh, Isabella [Author]; Bowles, Harry [Author]; Limbachiya, Naomi [Author]; Spargo, Thomas P. [Author]; Al-Khleifat, Ahmad [Author]; Williams, Kelly L. [Author]; Jockel-Balsarotti, Jennifer [Author]; Bali, Taha [Author]; Self, Wade [Author]; Henden, Lyndal [Author]; Nicholson, Garth A. [Author]; Ticozzi, Nicola [Author]; McKenna-Yasek, Diane [Author]; Tang, Lu [Author]; Shaw, Pamela J. [Author]; Chio, Adriano [Author]; Ludolph, Albert C. [Author]; [...]

    The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

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    12 November 2022

    Published in: Nature Communications ; 13(2022), Artikel-ID 6901, Seite 1-9

  5. Mehta, Puja R; Jones, Ashley R; Opie-Martin, Sarah; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Smith, Bradley N; Topp, Simon; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Morgan, Sarah; Pittman, Alan; Al-Chalabi, Ammar

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

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    BMJ, 2019

    Published in: Journal of Neurology, Neurosurgery & Psychiatry

  6. Musson, Lucy S.; Collins, Alexis; Opie-Martin, Sarah; Bredin, Andrea; Hobson, Esther V.; Barkhouse, Emily; Coulson, Mark C.; Stavroulakis, Theocharis; Gould, Rebecca L.; Al-Chalabi, Ammar; McDermott, Christopher J.

    Impact of the covid-19 pandemic on amyotrophic lateral sclerosis care in the UK

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    Informa UK Limited, 2023

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

  7. Kalia, Munishikha; Miotto, Mattia; Ness, Deborah; Opie-Martin, Sarah; Spargo, Thomas P.; Di Rienzo, Lorenzo; Biagini, Tommaso; Petrizzelli, Francesco; Al Khleifat, Ahmad; Kabiljo, Renata; Mazza, Tommaso; Ruocco, Giancarlo; Milanetti, Edoardo; Dobson, Richard JB; Al-Chalabi, Ammar; Iacoangeli, Alfredo

    Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

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    Elsevier BV, 2023

    Published in: Computational and Structural Biotechnology Journal

  8. Glennon, Elizabeth B; Lau, Dawn H W; Gabriele, Rebecca M C; Taylor, Matthew F; Troakes, Claire; Opie-Martin, Sarah; Elliott, Christina; Killick, Richard; Hanger, Diane P; Perez-Nievas, Beatriz G; Noble, Wendy

    Bridging integrator 1 protein loss in Alzheimer’s disease promotes synaptic tau accumulation and disrupts tau release

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    Oxford University Press (OUP), 2020

    Published in: Brain Communications

  9. Opie-Martin, Sarah; Jones, Ashley; Iacoangeli, Alfredo; Al-Khleifat, Ahmad; Oumar, Mohamed; Shaw, Pamela J.; Shaw, Chris E.; Morrison, Karen E.; Wootton, Robyn E.; Davey-Smith, George; Pearce, Neil; Al-Chalabi, Ammar

    UK case control study of smoking and risk of amyotrophic lateral sclerosis

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    Informa UK Limited, 2020

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

  10. Iacoangeli, Alfredo; Al Khleifat, Ahmad; Sproviero, William; Shatunov, Aleksey; Jones, Ashley R.; Opie-Martin, Sarah; Naselli, Ersilia; Topp, Simon D.; Fogh, Isabella; Hodges, Angela; Dobson, Richard J.; Newhouse, Stephen J.; Al-Chalabi, Ammar

    ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients

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    Informa UK Limited, 2019

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

  11. Iacoangeli, Alfredo; Al Khleifat, Ahmad; Jones, Ashley R.; Sproviero, William; Shatunov, Aleksey; Opie-Martin, Sarah; Morrison, Karen E.; Shaw, Pamela J.; Shaw, Christopher E.; Fogh, Isabella; Dobson, Richard J.; Newhouse, Stephen J.; Al-Chalabi, Ammar

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

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    Springer Science and Business Media LLC, 2019

    Published in: Acta Neuropathologica Communications

  12. Gowland, Alison; Opie-Martin, Sarah; Scott, Kirsten M.; Jones, Ashley R.; Mehta, Puja R.; Batts, Christine J.; Ellis, Cathy M.; Leigh, P. Nigel; Shaw, Christopher E.; Sreedharan, Jemeen; Al-Chalabi, Ammar

    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

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    Informa UK Limited, 2019

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

  13. Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Fang, Ton; Sproviero, William; Jones, Ashley R.; Opie-Martin, Sarah; Morrison, Karen E.; Shaw, Pamela J.; Shaw, Christopher E.; Powell, John F.; Dobson, Richard; Newhouse, Steven J.; Al-Chalabi, Ammar

    Telomere length is greater in ALS than in controls: a whole genome sequencing study

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    Informa UK Limited, 2019

    Published in: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

  14. Hop, Paul J; Zwamborn, Ramona A J; Hannon, Eilis J; Dekker, Annelot M; van Eijk, Kristel R; Walker, Emma M; Iacoangeli, Alfredo; Jones, Ashley R; Shatunov, Aleksey; Khleifat, Ahmad Al; Opie-Martin, Sarah; Shaw, Christopher E; Morrison, Karen E; Shaw, Pamela J; McLaughlin, Russell L; Hardiman, Orla; Al-Chalabi, Ammar; Van Den Berg, Leonard H; Mill, Jonathan; Veldink, Jan H

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

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    Oxford University Press (OUP), 2020

    Published in: NAR Genomics and Bioinformatics

  15. Iacoangeli, Alfredo; Lin, Tian; Al Khleifat, Ahmad; Jones, Ashley R.; Opie-Martin, Sarah; Coleman, Jonathan R.I.; Shatunov, Aleksey; Sproviero, William; Williams, Kelly L.; Garton, Fleur; Restuadi, Restuadi; Henders, Anjali K.; Mather, Karen A.; Needham, Merilee; Mathers, Susan; Nicholson, Garth A.; Rowe, Dominic B.; Henderson, Robert; McCombe, Pamela A.; Pamphlett, Roger; Blair, Ian P.; Schultz, David; Sachdev, Perminder S.; Newhouse, Stephen J.; [...]

    Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

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    Elsevier BV, 2020

    Published in: Cell Reports

  16. Mehta, Puja R; Iacoangeli, Alfredo; Opie-Martin, Sarah; van Vugt, Joke J F A; Al Khleifat, Ahmad; Bredin, Andrea; Ossher, Lynn; Andersen, Peter M; Hardiman, Orla; Mehta, Arpan R; Fratta, Pietro; Talbot, Kevin; Başak, Nazli A; Corcia, Philippe; Couratier, Philippe; de Carvalho, Mamede; Drory, Vivian; Glass, Jonathan D; Gotkine, Marc; Landers, John E; McLaughlin, Russell; Pardina, Jesus S Mora; Morrison, Karen E; Povedano, Monica; [...]

    The impact of age on genetic testing decisions in amyotrophic lateral sclerosis

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    Oxford University Press (OUP), 2022

    Published in: Brain

  17. Iacoangeli, Alfredo; Fogh, Isabella; Selvackadunco, Sashika; Topp, Simon D; Shatunov, Aleksey; van Rheenen, Wouter; Al-Khleifat, Ahmad; Opie-Martin, Sarah; Ratti, Antonia; Calvo, Andrea; Hardy, John Wim; Weale, Michael E Adriano; Ryten, Mina Richard J; Trabzuni, Daniah Orla; Ramasamy, Adaikalavan Christopher E; Smith, Colin Leonard H; Guelfi, Manuel Sebastian Peter M; D’sa, Karishma Bradley N; Forabosco, Paola Vincenzo; Van Damme, Philip; Robberecht, Wim; Chio, Adriano; Dobson, Richard J; Hardiman, Orla; [...]

    SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

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    Oxford University Press (OUP), 2021

    Published in: Brain Communications

  18. Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; [...]

    The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

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    Springer Science and Business Media LLC, 2022

    Published in: Nature Communications

  19. Al Khleifat, Ahmad; Iacoangeli, Alfredo; van Vugt, Joke J. F. A.; Bowles, Harry; Moisse, Matthieu; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Shatunov, Aleksey; Cooper-Knock, Johnathan; Topp, Simon; Byrne, Ross; Gellera, Cinzia; López, Victoria; Jones, Ashley R.; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Weber, Markus; Smith, Bradley; Fogh, Isabella; [...]

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

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    Springer Science and Business Media LLC, 2022

    Published in: npj Genomic Medicine

  20. Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; López, Victoria; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; [...]

    Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

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    Frontiers Media SA, 2022

    Published in: Frontiers in Cellular Neuroscience