Hasil Pencarian - Johnathan Cooper‐Knock

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  1. 1
    Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

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

    Diterbitkan 2020-07-01
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  2. 2
    Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis.

    Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis. oleh Nadhim Bayatti, Johnathan Cooper-Knock, Joanna J Bury, Matthew Wyles, Paul R Heath, Janine Kirby, Pamela J Shaw

    Diterbitkan 2014-01-01
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  3. 3
    Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

    Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study oleh Thomas H. Julian, Zain Girach, Eleanor Sanderson, Hui Guo, Jonathan Yu, Johnathan Cooper-Knock, Graeme C. Black, Panagiotis I. Sergouniotis

    Diterbitkan 2023-06-01
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  4. 4
    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 oleh Thomas H Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme CM Black, Panagiotis I Sergouniotis

    Diterbitkan 2023-01-01
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  5. 5
    Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

    Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East oleh Faisel Abu-Duhier, Vivetha Pooranachandran, Andrew J. G. McDonagh, Andrew G. Messenger, Johnathan Cooper-Knock, Youssef Bakri, Paul R. Heath, Rachid Tazi-Ahnini

    Diterbitkan 2018-01-01
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  6. 6
    Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing

    Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing oleh Lucy Crooks, Johnathan Cooper-Knock, Paul R. Heath, Ahmed Bouhouche, Mostafa Elfahime, Mimoun Azzouz, Youssef Bakri, Mohammed Adnaoui, Azeddine Ibrahimi, Saaïd Amzazi, Rachid Tazi-Ahnini

    Diterbitkan 2020-09-01
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  7. 7
    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) oleh Sarah L. Boddy, Ilaria Giovannelli, Matilde Sassani, Johnathan Cooper-Knock, Michael P. Snyder, Eran Segal, Eran Elinav, Lynne A. Barker, Pamela J. Shaw, Christopher J. McDermott

    Diterbitkan 2021-01-01
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  8. 8
    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. oleh Johnathan Cooper-Knock, Joanna J Bury, Paul R Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J Robin Highley, Guillaume Hautbergue, Magnus Rattray, Janine Kirby, Pamela J Shaw

    Diterbitkan 2015-01-01
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  9. 9
    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 oleh Elham Alhathli, Thomas Julian, Zain Ul Abideen Girach, A. A. Roger Thompson, Christopher Rhodes, Stefan Gräf, Niamh Errington, Martin R. Wilkins, Allan Lawrie, Dennis Wang, Johnathan Cooper‐Knock

    Diterbitkan 2024-03-01
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  10. 10
    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 oleh Thomas H Julian, Nicholas Glascow, A Dylan Fisher Barry, Tobias Moll, Calum Harvey, Yann C Klimentidis, Michelle Newell, Sai Zhang, Michael P Snyder, Johnathan Cooper-Knock, Pamela J Shaw

    Diterbitkan 2021-06-01
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  11. 11
    Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier

    Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier oleh Emily F. Goodall, Vicki Leach, Chunfang Wang, Johnathan Cooper-Knock, Paul R. Heath, David Baker, David R. Drew, M. Jill Saffrey, Julie E. Simpson, Ignacio A. Romero, Stephen B. Wharton

    Diterbitkan 2019-06-01
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  12. 12
    Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response

    Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response oleh Motaz M. Fadul, Paul R. Heath, Johnathan Cooper-Knock, Julian M. Kurz, Hayder A. Al-Azzawi, Zarki Ali, Taylor Smith, Fiona E. Matthews, Carol Brayne, Stephen B. Wharton, Julie E. Simpson

    Diterbitkan 2020-10-01
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  13. 13
    A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

    A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations oleh Scott P. Allen, Afnan Al Sultan, Elaine Kabucho Kibirige, Erin Tonkiss, Keaton J. Hamer, Lydia M. Castelli, Ya-Hui Lin, Sarah Roscoe, Nikolaos Stefanidis, Richard J. Mead, J. Robin Highley, Johnathan Cooper-Knock, Guillaume M. Hautbergue, Paul R. Heath, Janine Kirby, Pamela J. Shaw

    Diterbitkan 2023-05-01
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  14. 14
    Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

    Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders oleh Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman

    Diterbitkan 2021-11-01
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  15. 15
    SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

    SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits oleh Guillaume M. Hautbergue, Lydia M. Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S. Bauer, Jennifer E. Dodd, Monika A. Myszczynska, Sarah M. Alam, Pierre Garneret, Jayanth S. Chandran, Evangelia Karyka, Matthew J. Stopford, Emma F. Smith, Janine Kirby, Kathrin Meyer, Brian K. Kaspar, Adrian M. Isaacs, Sherif F. El-Khamisy, Kurt J. De Vos, Ke Ning, Mimoun Azzouz, Alexander J. Whitworth, Pamela J. Shaw

    Diterbitkan 2017-07-01
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  16. 16
    Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

    Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis oleh Calum Harvey, Marcel Weinreich, James A.K. Lee, Allan C. Shaw, Laura Ferraiuolo, Heather Mortiboys, Sai Zhang, Paul J. Hop, Ramona A.J. Zwamborn, Kristel van Eijk, Thomas H. Julian, Tobias Moll, Alfredo Iacoangeli, Ahmad Al Khleifat, John P. Quinn, Abigail L. Pfaff, Sulev Kõks, Joanna Poulton, Stephanie L. Battle, Dan E. Arking, Michael P. Snyder, Jan H. Veldink, Kevin P. Kenna, Pamela J. Shaw, Johnathan Cooper-Knock

    Diterbitkan 2024-02-01
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  17. 17
    Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

    Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS oleh Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli

    Diterbitkan 2024-07-01
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  18. 18
    Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

    Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene oleh Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Ammar Al-Chalabi, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass

    Diterbitkan 2020-12-01
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  19. 19
    Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

    Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis oleh 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 Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi

    Diterbitkan 2022-01-01
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  20. 20
    Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

    Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival oleh Brett N. Adey, Brett N. Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, Isabella Fogh, Philip van Damme, Philip van Damme, Philip van Damme, Philippe Corcia, Philippe Corcia, Philippe Couratier, Philippe Couratier, Orla Hardiman, Russell McLaughlin, Marc Gotkine, Marc Gotkine, Vivian Drory, Vivian Drory, Vincenzo Silani, Vincenzo Silani, Nicola Ticozzi, Nicola Ticozzi, Jan H. Veldink, Leonard H. van den Berg, Mamede de Carvalho, Susana Pinto, Jesus S. Mora Pardina, Mónica Povedano Panades, Peter M. Andersen, Markus Weber, Nazli A. Başak, Christopher E. Shaw, Pamela J. Shaw, Karen E. Morrison, John E. Landers, Jonathan D. Glass, Patrick Vourc’h, Patrick Vourc’h, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Gerome Breen, Ammar Al-Chalabi, Ammar Al-Chalabi, Ashley R. Jones, Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli

    Diterbitkan 2023-03-01
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