Risultati della ricerca - Johnathan Cooper‐Knock

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  1. 1
    The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

    The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype di Johnathan Cooper‐Knock, Pamela J. Shaw, Janine Kirby

    Pubblicazione 2014
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  2. 2
    Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

    Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration di Tobias Moll, Pamela J. Shaw, Johnathan Cooper‐Knock

    Pubblicazione 2019
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  3. 3
    Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence

    Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence di Laura Chapman, Johnathan Cooper‐Knock, Pamela J. Shaw

    Pubblicazione 2023
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  4. 4
    Genetics of Familial Amyotrophic Lateral Sclerosis

    Genetics of Familial Amyotrophic Lateral Sclerosis di Feneberg Emily, J. Joanna, Johnathan Cooper‐Knock, J. Pamela, Janine Kirby

    Pubblicazione 2012
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  5. 5
    The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

    The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis di Johnathan Cooper‐Knock, Janine Kirby, J. Robin Highley, Pamela J. Shaw

    Pubblicazione 2015
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  6. 6
    Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

    Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia di Ramya Ranganathan, Shaila Haque, Kayesha Coley, Stephanie Shepheard, Johnathan Cooper‐Knock, Janine Kirby

    Pubblicazione 2020
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  7. 7
    Gene expression profiling in human neurodegenerative disease

    Gene expression profiling in human neurodegenerative disease di Johnathan Cooper‐Knock, Janine Kirby, Laura Ferraiuolo, Paul R. Heath, Magnus Rattray, Pamela J. Shaw

    Pubblicazione 2012
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  8. 8
    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration di Thomas Julian, Johnathan Cooper‐Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2023
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  9. 9
    A multistage, multitask transformer-based framework for multi-disease diagnosis and prediction using personal proteomes

    A multistage, multitask transformer-based framework for multi-disease diagnosis and prediction using personal proteomes di Han Li, Yongkang Li, Yukuan Liu, Johnathan Cooper‐Knock, Peng Gao, Xiaotao Shen, Shengquan Chen, Xiaoping Xing, Sai Zhang

    Pubblicazione 2025
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  10. 10
    Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

    Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation di Vladimir L. Buchman, Johnathan Cooper‐Knock, Natalie Connor‐Robson, Adrian Higginbottom, Janine Kirby, O D Razinskaya, Natalia Ninkina, Pamela J. Shaw

    Pubblicazione 2013
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  11. 11
    The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)

    The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS) di Sarah Boddy, Ilaria Giovannelli, Matilde Sassani, Johnathan Cooper‐Knock, M Snyder, Eran Segal, Eran Elinav, Lynne Barker, Pamela J. Shaw, Christopher McDermott

    Pubblicazione 2021
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  12. 12
    Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis

    Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis di Alejandro Lorente Pons, Adrian Higginbottom, Johnathan Cooper‐Knock, Aziza Alrafiah, Ebtisam A. Al-ofi, Janine Kirby, Pamela J. Shaw, Jonathan Wood, J. Robin Highley

    Pubblicazione 2020
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  13. 13
    Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes

    Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes di Thomas Julian, Nicholas Glascow, Adrian Barry, Tobias Moll, Calum Harvey, Yann C. Klimentidis, Michelle Newell, Sai Zhang, M Snyder, Johnathan Cooper‐Knock, Pamela J. Shaw

    Pubblicazione 2021
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  14. 14
    Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS)

    Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS) di Rachel Waller, Gerald Goodall, Marta Milo, Johnathan Cooper‐Knock, Marc Da Costa, Esther Hobson, Mbombe Kazoka, Helen Wollff, Paul R. Heath, Pamela J. Shaw, Janine Kirby

    Pubblicazione 2017
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  15. 15
    Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice

    Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice di Michail S. Kukharsky, Natalia Ninkina, Haiyan An, Vsevolod Telezhkin, Wenbin Wei, Camille Rabesahala de Meritens, Johnathan Cooper‐Knock, Shinichi Nakagawa, Tetsuro Hirose, Vladimir L. Buchman, Tatyana A. Shelkovnikova

    Pubblicazione 2020
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  16. 16
    Mendelian Randomization Study With Clinical Follow‐Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension

    Mendelian Randomization Study With Clinical Follow‐Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension di Elham Alhathli, Thomas Julian, Zain Girach, A. A. Roger Thompson, Christopher J. Rhodes, Stefan Gräf, Niamh Errington, Martin R. Wilkins, Allan Lawrie, Dennis Wang, Johnathan Cooper‐Knock

    Pubblicazione 2024
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  17. 17
    Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

    Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy di Johnathan Cooper‐Knock, Adrian Higginbottom, Matthew J. Stopford, J. Robin Highley, Paul G. Ince, Stephen B. Wharton, Stuart Pickering‐Brown, Janine Kirby, Guillaume M. Hautbergue, Pamela J. Shaw

    Pubblicazione 2015
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  18. 18
    A review of Mendelian randomization in amyotrophic lateral sclerosis

    A review of Mendelian randomization in amyotrophic lateral sclerosis di Thomas Julian, Sarah Boddy, Mahjabin Islam, Julian Kurz, Katherine J. Whittaker, Tobias Moll, Calum Harvey, Sai Zhang, M Snyder, Christopher McDermott, Johnathan Cooper‐Knock, Pamela J. Shaw

    Pubblicazione 2021
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  19. 19
    C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

    C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis di Johnathan Cooper‐Knock, Joanna J. Bury, Paul R. Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J. Robin Highley, Guillaume M. Hautbergue, Magnus Rattray, Janine Kirby, Pamela J. Shaw

    Pubblicazione 2015
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  20. 20
    A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds

    A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds di Shirlene Badger, Ian Coldicott, Ergita Kyrgiou-Balli, Adrian Higginbottom, Chloé Moutin, Kamallia Mohd Imran, John C. C. Day, Johnathan Cooper‐Knock, Richard J. Mead, James J. P. Alix

    Pubblicazione 2025
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