检索结果 - Johnathan Cooper‐Knock
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Genetics of Familial Amyotrophic Lateral Sclerosis 由 Feneberg Emily, J. Joanna, Johnathan Cooper‐Knock, J. Pamela, Janine Kirby
出版 2012Capítulo de Livro -
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Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation 由 Vladimir L. Buchman, Johnathan Cooper‐Knock, Natalie Connor‐Robson, Adrian Higginbottom, Janine Kirby, O D Razinskaya, Natalia Ninkina, Pamela J. Shaw
出版 2013Artigo -
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Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes 由 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
出版 2021Artigo -
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Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice 由 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
出版 2020Artigo -
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Mendelian Randomization Study With Clinical Follow‐Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension 由 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
出版 2024Artigo -
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Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy 由 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
出版 2015Artigo -
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C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis 由 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
出版 2015Artigo -
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A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds 由 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
出版 2025Artigo
相关主题
Biology
Medicine
Disease
Genetics
Gene
Amyotrophic lateral sclerosis
Pathology
C9orf72
Internal medicine
Dementia
Frontotemporal dementia
Neuroscience
Allele
Genotype
Trinucleotide repeat expansion
Bioinformatics
Single-nucleotide polymorphism
Computational biology
Phenotype
Gene expression
Neurodegeneration
Immunology
Cell biology
Genetic variants
Genome-wide association study
Mendelian randomization
RNA
Transcriptome
Mendelian inheritance
Messenger RNA