Items where authors include "Cooper-Knock, J."

Article

Demaegd, K.C. orcid.org/0000-0001-9606-0531, Kernan, A. orcid.org/0009-0001-3168-1262, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (27 more authors) (2025) An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. European Journal of Human Genetics. ISSN 1018-4813

Iacoangeli, A. orcid.org/0000-0002-5280-5017, Dilliott, A.A., Al Khleifat, A. et al. (30 more authors) (2025) Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. Journal of Neurology, Neurosurgery & Psychiatry. ISSN 0022-3050

Badger, S.E. orcid.org/0009-0009-3696-8578, Coldicott, I., Kyrgiou-Balli, E. et al. (7 more authors) (2025) A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds. Disease Models & Mechanisms, 18 (2). ISSN 1754-8403

Harvey, C., Nowak, A., Zhang, S. et al. (13 more authors) (2025) Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons. BMC Medical Genomics, 18. 10. ISSN 1755-8794

Benatar, M. orcid.org/0000-0003-4241-5135, Heiman-Patterson, T.D. orcid.org/0000-0002-9910-1041, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (12 more authors) (2024) Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD. Journal of Neurology, Neurosurgery and Psychiatry, 96 (3). pp. 209-218. ISSN 0022-3050

Balvert, M., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Stamp, J. et al. (37 more authors) (2024) Considerations in the search for epistasis. Genome Biology, 25. 296. ISSN 1474-7596

Saez-Atienzar, S., Souza, C.D.S., Chia, R. et al. (323 more authors) (2024) Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. Cell Genomics, 4 (11). 100679. ISSN 2666-979X

Taş, G. orcid.org/0009-0008-2409-0246, Westerdijk, T., Postma, E. et al. (87 more authors) (2024) Computing linkage disequilibrium aware genome embeddings using autoencoders. Bioinformatics, 40 (6). btae326. ISSN 1367-4803

Harvey, C., Weinreich, M. orcid.org/0009-0003-1576-3385, Lee, J.A.K. orcid.org/0000-0001-9843-6475 et al. (22 more authors) (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10 (3). e24975. ISSN 2405-8440

Julian, T.H., Girach, Z., Sanderson, E. et al. (5 more authors) (2023) Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study. Scientific Reports, 13. 9984. ISSN 2045-2322

Allen, S.P. orcid.org/0000-0003-4418-7375, Al Sultan, A., Kabucho Kibirige, E. et al. (13 more authors) (2023) A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations. Frontiers in Aging Neuroscience, 15. 1151848. ISSN 1663-4365

Chapman, L. orcid.org/0000-0001-6174-9435, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2023) Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence. Brain, 146 (5). pp. 1745-1757. ISSN 0006-8950

Adey, B.N., Cooper-Knock, J., Al Khleifat, A. et al. (30 more authors) (2023) Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17. 1112405. ISSN 1662-5102

Castelli, L.M., Lin, Y.-H., Sanchez-Martinez, A. et al. (19 more authors) (2023) A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine, 15 (685). ISSN 1946-6234

Julian, T.H. orcid.org/0000-0002-5488-5620, Cooper-Knock, J. orcid.org/0000-0002-0873-8689, MacGregor, S. et al. (5 more authors) (2023) Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife, 12. ISSN 2050-084X

Al Khleifat, A., Iacoangeli, A., Jones, A.R. et al. (42 more authors) (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16. 1050596. ISSN 1662-5102

Zhang, S., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Weimer, A.K. et al. (17 more authors) (2022) Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity. Cell Systems, 13 (8). pp. 598-614. ISSN 2405-4712

Eitan, C. orcid.org/0000-0001-6952-0336, Siany, A., Barkan, E. et al. (46 more authors) (2022) Whole-genome sequencing reveals that variants in the Interleukin 18 receptor accessory protein 3′UTR protect against ALS. Nature Neuroscience, 25 (4). pp. 433-445. ISSN 1097-6256

Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120, Moll, T. et al. (17 more authors) (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4 (2). fcac069. ISSN 2632-1297

Zhang, S., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Weimer, A.K. et al. (23 more authors) (2022) Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron, 110 (6). pp. 992-1008. ISSN 0896-6273

Julian, T.H. orcid.org/0000-0002-5488-5620, Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120 et al. (9 more authors) (2022) A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain, 145 (3). pp. 832-842. ISSN 0006-8950

Hop, P.J. orcid.org/0000-0002-9007-7436, Zwamborn, R.A.J. orcid.org/0000-0003-3952-5042, Hannon, E. orcid.org/0000-0001-6840-072X et al. (151 more authors) (2022) Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633). eabj0264. ISSN 1946-6234

Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.

Cooper-Knock, J. orcid.org/0000-0002-0873-8689 (2022) Implications of confirmed de novo pathogenic SOD1 mutations. Journal of Neurology, Neurosurgery and Psychiatry, 93 (2). 118. ISSN 0022-3050

Moll, T., Marshall, J.N.G., Soni, N. et al. (3 more authors) (2021) Membrane lipid raft homeostasis is directly linked to neurodegeneration. Essays in Biochemistry, 65 (7). pp. 999-1011. ISSN 0071-1365

Gilley, J., Jackson, O., Pipis, M. et al. (19 more authors) (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife, 10. e70905. ISSN 2050-084X

Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Harvey, C. orcid.org/0000-0001-5033-9385, Zhang, S. et al. (5 more authors) (2021) Advances in the genetic classification of amyotrophic lateral sclerosis. Current Opinion in Neurology, 34 (5). pp. 756-764. ISSN 1350-7540

Julian, T.H. orcid.org/0000-0002-5488-5620, Glascow, N., Barry, A.D.F. et al. (8 more authors) (2021) Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes. EBioMedicine, 68. 103397. ISSN 2352-3964

Shepheard, S.R., Parker, M.D. orcid.org/0000-0003-2999-3870, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (15 more authors) (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 92 (5). pp. 510-518. ISSN 0022-3050

Boddy, S.L., Giovannelli, I., Sassani, M. orcid.org/0000-0002-0384-7296 et al. (7 more authors) (2021) The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Medicine, 19 (1). 13. ISSN 1741-7015

Ghahremani Nezhad, H., Franklin, J.P., Alix, J.J.P. orcid.org/0000-0001-8391-9749 et al. (10 more authors) (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (7-8). pp. 579-582. ISSN 2167-8421

Crooks, L., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Heath, P.R. et al. (8 more authors) (2020) Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing. BMC Genetics, 21 (1). 111.

Fadul, M.M. orcid.org/0000-0002-2208-9988, Heath, P.R., Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (8 more authors) (2020) Transcriptomic analysis of age-associated periventricular lesions reveals dysregulation of the immune response. International Journal of Molecular Sciences, 21 (21). 7924. ISSN 1661-6596

Franklin, J.P., Cooper-Knock, J., Baheerathan, A. et al. (6 more authors) (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8). pp. 627-630. ISSN 2167-8421

Ranganathan, R., Haque, S., Coley, K. et al. (3 more authors) (2020) Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia. Frontiers in Neuroscience, 14. 684. ISSN 1662-4548

Moll, T., Shaw, P.J. orcid.org/0000-0002-8925-2567 and Cooper-Knock, J. orcid.org/0000-0002-0873-8689 (2020) Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration. Brain, 143 (5). pp. 1332-1340. ISSN 0006-8950

Goodall, E.F., Leach, V., Wang, C. et al. (8 more authors) (2019) Age-associated mRNA and miRNA expression changes in the blood-brain barrier. International Journal of Molecular Sciences, 20 (12). 3097. ISSN 1661-6596

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247

Abu-Duhier, F., Pooranachandran, V., McDonagh, A.J.G. et al. (5 more authors) (2018) Whole genome sequencing in an acrodermatitis enteropathica family from the Middle East. Dermatology Research and Practice, 2018. 1284568. ISSN 1687-6105

Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Robins, H., Niedermoser, I. et al. (11 more authors) (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience, 10. 370. ISSN 1662-5099

Hautbergue, G.M. orcid.org/0000-0002-1621-261X, Castelli, L.M., Ferraiuolo, L. et al. (23 more authors) (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8. 16063 (201.

Waller, R. orcid.org/0000-0001-5815-8829, Goodall, E.F., Milo, M. et al. (8 more authors) (2017) Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 55. pp. 123-131. ISSN 0197-4580

Cooper-Knock, J., Green, C., Altschuler, G. et al. (14 more authors) (2017) A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis. Acta Neuropathologica Communications, 5. 23. ISSN 2051-5960

Stopford, M.J., Higginbottom, A., Hautbergue, G.M. et al. (14 more authors) (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics, 26 (6). pp. 1133-1145. ISSN 0964-6906

Bury, J.J., Highley, J.R., Cooper-Knock, J. et al. (6 more authors) (2016) Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Neuropathology , 36 (2). pp. 125-134. ISSN 0919-6544

Beer, A.M., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Fletcher, S. et al. (3 more authors) (2016) Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (7-8). pp. 614-616. ISSN 2167-8421

Cooper-Knock, J., Higginbottom, A., Stopford, M.J. et al. (7 more authors) (2015) Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathologica, 130 (1). pp. 63-75. ISSN 0001-6322

Highley, J.R., Lorente Pons, A., Cooper-Knock, J. et al. (5 more authors) (2015) Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions. Neuropathology and Applied Neurobiology. ISSN 0305-1846

Cooper-Knock, J., Bury, J.J., Heath, P.R. et al. (8 more authors) (2015) C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLoS One, 10 (5). e0127376 . ISSN 1932-6203

Cooper-Knock, J., Kirby, J., Highley, R. et al. (1 more author) (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics, 12 (2). pp. 326-339. ISSN 1933-7213

Walsh, M.J., Cooper-Knock, J., Dodd, J.E. et al. (5 more authors) (2015) Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathology and Applied Neurobiology, 41 (2). pp. 109-134. ISSN 0305-1846

Peters, O.M., Shelkovnikova, T., Highley, J.R. et al. (5 more authors) (2015) Gamma-synuclein pathology in amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology, 2 (1). 29 - 37. ISSN 2328-9503

Beer, A.M., Cooper-Knock, J., Higginbottom, A. et al. (8 more authors) (2014) Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (3-4). pp. 249-251. ISSN 2167-8421

Green, N.H., Nicholls, Z., Heath, P.R. et al. (4 more authors) (2014) Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa. International Journal of Experimental Pathology, 95 (3). 216 - 228. ISSN 0959-9673

Cooper-Knock, J., Walsh, M.J., Higginbottom, A. et al. (9 more authors) (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain, 137. 2040 - 2051. ISSN 0006-8950

Gallagher, M. D., Suh, E., Grossman, M. et al. (73 more authors) (2014) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathologica, 127 (3). pp. 407-418. ISSN 0001-6322

Cooper-Knock, J., Shaw, P.J. and Kirby, J. (2014) The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathologica, 127 (3). pp. 333-345. ISSN 0001-6322

Buchman, V.L., Cooper-Knock, J., Connor-Robson, N. et al. (5 more authors) (2013) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Molecular Neurodegeneration, 8. 12. ISSN 1750-1326

Proceedings Paper

Pons, A.L., Shaw, P.J. orcid.org/0000-0002-8925-2567, Ince, P.G. et al. (5 more authors) (2016) Investigating the Mechanisms Underlying Oligodendrocyte Dysfunction in C9ORF72 ALS. In: Journal of Pathology. 9th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 28/6/2016 - 1/7/2016, Nottingham, UK. Wiley , S13-S13.

Lorente-Pons, A., Wood, J.D., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (5 more authors) (2016) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 117th meeting of the British Neuropathological Society, 2–4 March 2016, Royal College of Physicians, London. Wiley , p. 28.

Preprint

Yonchev, I.D. orcid.org/0000-0001-8486-7362, Apostol, C.V. orcid.org/0000-0002-2309-7285, Griffith, L. orcid.org/0009-0008-0223-8895 et al. (13 more authors) (2023) hnRNPUL1 ensures efficient Integrator-mediated cleavage of snRNAs and is mutated in amyotrophic lateral sclerosis. [Preprint] (Submitted)