Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis
Lorente Pons, Alejandro, Higginbottom, Adrian, Cooper‐Knock, Johnathan, Alrafiah, Aziza, Alofi, Ebtisam, Kirby, Janine, Shaw, Pamela J, Wood, Jonathan D, Highley, J Robin
Published in The Journal of pathology (01.07.2020)
Published in The Journal of pathology (01.07.2020)
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Journal Article
Mendelian Randomization Study With Clinical Follow-Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension
Alhathli, Elham, Julian, Thomas, Girach, Zain Ul Abideen, Thompson, A A Roger, Rhodes, Christopher, Gräf, Stefan, Errington, Niamh, Wilkins, Martin R, Lawrie, Allan, Wang, Dennis, Cooper-Knock, Johnathan
Published in Journal of the American Heart Association (19.03.2024)
Published in Journal of the American Heart Association (19.03.2024)
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Journal Article
Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration
Moll, Tobias, Shaw, Pamela J, Cooper-Knock, Johnathan
Published in Brain (London, England : 1878) (01.05.2020)
Published in Brain (London, England : 1878) (01.05.2020)
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Journal Article
Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis
Marmor-Kollet, Hagai, Siany, Aviad, Kedersha, Nancy, Knafo, Naama, Rivkin, Natalia, Danino, Yehuda M., Moens, Thomas G., Olender, Tsviya, Sheban, Daoud, Cohen, Nir, Dadosh, Tali, Addadi, Yoseph, Ravid, Revital, Eitan, Chen, Toth Cohen, Beata, Hofmann, Sarah, Riggs, Claire L., Advani, Vivek M., Higginbottom, Adrian, Cooper-Knock, Johnathan, Hanna, Jacob H., Merbl, Yifat, Van Den Bosch, Ludo, Anderson, Paul, Ivanov, Pavel, Geiger, Tamar, Hornstein, Eran
Published in Molecular cell (03.12.2020)
Published in Molecular cell (03.12.2020)
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Journal Article
The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)
Boddy, Sarah L, Giovannelli, Ilaria, Sassani, Matilde, Cooper-Knock, Johnathan, Snyder, Michael P, Segal, Eran, Elinav, Eran, Barker, Lynne A, Shaw, Pamela J, McDermott, Christopher J
Published in BMC medicine (20.01.2021)
Published in BMC medicine (20.01.2021)
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Journal Article
A review of Mendelian randomization in amyotrophic lateral sclerosis
Julian, Thomas H, Boddy, Sarah, Islam, Mahjabin, Kurz, Julian, Whittaker, Katherine J, Moll, Tobias, Harvey, Calum, Zhang, Sai, Snyder, Michael P, McDermott, Christopher, Cooper-Knock, Johnathan, Shaw, Pamela J
Published in Brain (London, England : 1878) (29.04.2022)
Published in Brain (London, England : 1878) (29.04.2022)
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Journal Article
Gamma‐synuclein pathology in amyotrophic lateral sclerosis
Peters, Owen M., Shelkovnikova, Tatyana, Highley, John Robin, Cooper‐Knock, Johnathan, Hortobágyi, Tibor, Troakes, Claire, Ninkina, Natalia, Buchman, Vladimir L.
Published in Annals of clinical and translational neurology (01.01.2015)
Published in Annals of clinical and translational neurology (01.01.2015)
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Journal Article
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
COOPER-KNOCK, Johnathan, WALSH, Matthew J, HAUTBERGUE, Guillaume M, SHAW, Pamela J, HIGGINBOTTOM, Adrian, HIGHLEY, J. Robin, DICKMAN, Mark J, EDBAUER, Dieter, INCE, Paul G, WHARTON, Stephen B, WILSON, Stuart A, KIRBY, Janine
Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Journal Article
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Ranganathan, Ramya, Haque, Shaila, Coley, Kayesha, Shepheard, Stephanie, Cooper-Knock, Johnathan, Kirby, Janine
Published in Frontiers in neuroscience (07.07.2020)
Published in Frontiers in neuroscience (07.07.2020)
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Journal Article
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.
Published in Neuron (Cambridge, Mass.) (16.03.2022)
Published in Neuron (Cambridge, Mass.) (16.03.2022)
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Journal Article
Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
Julian, Thomas H, Glascow, Nicholas, Barry, A Dylan Fisher, Moll, Tobias, Harvey, Calum, Klimentidis, Yann C, Newell, Michelle, Zhang, Sai, Snyder, Michael P, Cooper-Knock, Johnathan, Shaw, Pamela J
Published in EBioMedicine (01.06.2021)
Published in EBioMedicine (01.06.2021)
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Journal Article
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
Hautbergue, Guillaume M., Castelli, Lydia M., Ferraiuolo, Laura, Sanchez-Martinez, Alvaro, Cooper-Knock, Johnathan, Higginbottom, Adrian, Lin, Ya-Hui, Bauer, Claudia S., Dodd, Jennifer E., Myszczynska, Monika A., Alam, Sarah M., Garneret, Pierre, Chandran, Jayanth S., Karyka, Evangelia, Stopford, Matthew J., Smith, Emma F., Kirby, Janine, Meyer, Kathrin, Kaspar, Brian K., Isaacs, Adrian M., El-Khamisy, Sherif F., De Vos, Kurt J., Ning, Ke, Azzouz, Mimoun, Whitworth, Alexander J., Shaw, Pamela J.
Published in Nature communications (05.07.2017)
Published in Nature communications (05.07.2017)
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Journal Article
Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study
Julian, Thomas H., Girach, Zain, Sanderson, Eleanor, Guo, Hui, Yu, Jonathan, Cooper-Knock, Johnathan, Black, Graeme C., Sergouniotis, Panagiotis I.
Published in Scientific reports (20.06.2023)
Published in Scientific reports (20.06.2023)
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Journal Article
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
Cooper-Knock, Johnathan, Bury, Joanna J, Heath, Paul R, Wyles, Matthew, Higginbottom, Adrian, Gelsthorpe, Catherine, Highley, J Robin, Hautbergue, Guillaume, Rattray, Magnus, Kirby, Janine, Shaw, Pamela J
Published in PloS one (27.05.2015)
Published in PloS one (27.05.2015)
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Journal Article
Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP
Cooper‐Knock, Johnathan, Julian, Thomas H., Feneberg, Emily, Highley, J. Robin, Sidra, Maurice, Turner, Martin R., Talbot, Kevin, Ansorge, Olaf, Allen, Scott P., Moll, Tobias, Shelkovnikova, Tatyana, Castelli, Lydia, Hautbergue, Guillaume M., Hewitt, Christopher, Kirby, Janine, Wharton, Stephen B., Mead, Richard J., Shaw, Pamela J.
Published in Brain pathology (Zurich, Switzerland) (01.01.2023)
Published in Brain pathology (Zurich, Switzerland) (01.01.2023)
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Journal Article
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration
Julian, Thomas H, Cooper-Knock, Johnathan, MacGregor, Stuart, Guo, Hui, Aslam, Tariq, Sanderson, Eleanor, Black, Graeme C M, Sergouniotis, Panagiotis I
Published in eLife (27.01.2023)
Published in eLife (27.01.2023)
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Journal Article
Considerations in the search for epistasis
Balvert, Marleen, Cooper-Knock, Johnathan, Stamp, Julian, Byrne, Ross P, Mourragui, Soufiane, van Gils, Juami, Benonisdottir, Stefania, Schlüter, Johannes, Kenna, Kevin, Abeln, Sanne, Iacoangeli, Alfredo, Daub, Joséphine T, Browning, Brian L, Taş, Gizem, Hu, Jiajing, Wang, Yan, Alhathli, Elham, Harvey, Calum, Pianesi, Luna, Schulte, Sara C, González-Domínguez, Jorge, Garrisson, Erik, Snyder, Michael P, Schönhuth, Alexander, Sng, Letitia M F, Twine, Natalie A
Published in Genome Biology (19.11.2024)
Published in Genome Biology (19.11.2024)
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Journal Article
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
Gilley, Jonathan, Jackson, Oscar, Pipis, Menelaos, Estiar, Mehrdad A, Al-Chalabi, Ammar, Danzi, Matt C, van Eijk, Kristel R, Goutman, Stephen A, Harms, Matthew B, Houlden, Henry, Iacoangeli, Alfredo, Kaye, Julia, Lima, Leandro, Ravits, John, Rouleau, Guy A, Schüle, Rebecca, Xu, Jishu, Züchner, Stephan, Cooper-Knock, Johnathan, Gan-Or, Ziv, Reilly, Mary M, Coleman, Michael P
Published in eLife (19.11.2021)
Published in eLife (19.11.2021)
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Journal Article
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, Shaw, Pamela J.
Published in Neurotherapeutics (01.04.2015)
Published in Neurotherapeutics (01.04.2015)
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