Items where authors include "Kirby, J."

Article

Waller, R. orcid.org/0000-0001-5815-8829, Bury, J.J., Appleby-Mallinder, C. et al. (10 more authors) (2024) Establishing mRNA and microRNA interactions driving disease heterogeneity in amyotrophic lateral sclerosis patient survival. Brain Communications, 6 (1). fcad331. ISSN 2632-1297

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

Jiménez-Villegas, J., Kirby, J. orcid.org/0000-0002-7468-5917, Mata, A. et al. (6 more authors) (2022) Dipeptide repeat pathology in C9orf72-ALS Is associated with redox, mitochondrial and NRF2 pathway imbalance. Antioxidants, 11 (10). 1897. ISSN 2076-3921

Cooper‐Knock, J., Julian, T.H., Feneberg, E. et al. (15 more authors) (2022) Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology. e13104. ISSN 1015-6305

Thompson, A.G., Gray, E., Verber, N. et al. (20 more authors) (2022) Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain. Brain Communications, 4 (1). fcac029. ISSN 2632-1297

Giovannelli, I., Bayatti, N., Brown, A. et al. (23 more authors) (2021) Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2. Brain Communications, 3 (3). fcab141. ISSN 2632-1297

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

Wallace, A., Hodgetts, V., Kirby, J. et al. (5 more authors) (2021) Evaluation of a new paediatric dentistry intravenous sedation service. British Dental Journal. ISSN 0007-0610

Appleby‐Mallinder, C., Schaber, E., Kirby, J. orcid.org/0000-0002-7468-5917 et al. (4 more authors) (2021) TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology, 47 (1). pp. 61-72. ISSN 0305-1846

De Marco, M. orcid.org/0000-0002-9240-8067, Manca, R. orcid.org/0000-0003-1715-6442, Kirby, J. orcid.org/0000-0002-7468-5917 et al. (5 more authors) (2020) The association between polygenic hazard and markers of Alzheimer’s disease following stratification for APOE genotype. Current Alzheimer Research, 17 (7). pp. 667-679. ISSN 1567-2050

Camu, W., Mickunas, M., Veyrune, J.-L. et al. (18 more authors) (2020) Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial. EBioMedicine, 59. 102844. ISSN 2352-3964

Giovannelli, I., Heath, P., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (1 more author) (2020) The involvement of regulatory T cells in amyotrophic lateral sclerosis and their therapeutic potential. Amyotrophic lateral sclerosis & frontotemporal degeneration, 21 (5-6). pp. 435-444. ISSN 2167-9223

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

Lorente Pons, A., Higginbottom, A. orcid.org/0000-0002-3246-6695, Cooper‐Knock, J. et al. (6 more authors) (2020) Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis. The Journal of Pathology, 251 (3). pp. 262-271. ISSN 0022-3417

Weinreich, M., Shepheard, S., Verber, N. et al. (5 more authors) (2020) Neuropathological characterisation of a novel TBK1 loss of function mutation associated with amyotrophic lateral sclerosis. Neuropathology & Applied Neurobiology, 46 (3). pp. 279-291. ISSN 0305-1846

Kirby, J., Walshaw, E.G., Yesudian, G. et al. (1 more author) (2020) Repeat paediatric dental general anaesthesia at Sheffield Children's NHS Foundation Trust: a service evaluation. British Dental Journal, 228 (4). pp. 255-258. ISSN 0007-0610

Kirby, J. and Harris, J.C. orcid.org/0000-0002-5597-3737 (2019) Development and evaluation of a 'was not brought' pathway: a team approach to managing children's missed dental appointments. British Dental Journal, 227 (4). pp. 291-297. ISSN 0007-0610

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

Gkazi, S.A., Troakes, C., Topp, S. et al. (10 more authors) (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging, 73. 229.e5-229.e9. ISSN 0197-4580

de Majo, M., Topp, S.D., Smith, B.N. et al. (30 more authors) (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71. 266.e1-266.e10.

Rodd, H., Kirby, J., Duffy, E. et al. (5 more authors) (2018) Children’s experiences following a CBT intervention to reduce dental anxiety: one year on. British Dental Journal, 225 (3). pp. 247-251. ISSN 0007-0610

Marshman, Z. orcid.org/0000-0003-0943-9637, Kirby, J. and Rodd, H. (2018) Cognitive behavioural therapy and the adolescent patient. Dental Update, 45 (4). pp. 311-318. ISSN 0305-5000

Waller, R. orcid.org/0000-0001-5815-8829, Wyles, M., Heath, P.R. et al. (4 more authors) (2018) Small RNA sequencing of sporadic amyotrophic lateral sclerosis cerebrospinal fluid reveals differentially expressed miRNAs related to neural and glial activity. Frontiers in Neuroscience, 11. 731. ISSN 1662-4548

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 (2017).

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

Smith, B.N., Topp, S.D., Fallini, C. et al. (53 more authors) (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9 (388). eaad9157. ISSN 1946-6234

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

Porritt, J., Rodd, H., Morgan, A. et al. (9 more authors) (2017) Development and Testing of a Cognitive Behavioral Therapy Resource for Childrens Dental Anxiety. JDR Clinical & Translational Research, 2 (1). pp. 23-37. ISSN 2380-0844

Al Sultan, A., Waller, R., Heath, P. et al. (1 more author) (2016) The Genetics of Amyotrophic Lateral Sclerosis: Current Insights. Degenerative Neurological and Neuromuscular Disease, 2016 (6). pp. 49-64. ISSN 1179-9900

Oeckl, P., Jardel, C., Salachas, F. et al. (32 more authors) (2016) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. pp. 1-10. ISSN 2167-8421

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

Marshman, Z. orcid.org/0000-0003-0943-9637, Morgan, A. orcid.org/0000-0002-9383-421X, Porritt, J. et al. (9 more authors) (2016) Protocol for a feasibility study of a self-help cognitive behavioural therapy resource for the reduction of dental anxiety in young people. Pilot and Feasibility Studies, 2 (1). 13. ISSN 2055-5784

Gaastra, B., Shatunov, A., Pulit, S. et al. (15 more authors) (2016) Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (7-8). pp. 593-599. ISSN 2167-8421

Baker, D.J., Blackburn, D.J., Keatinge, M. et al. (6 more authors) (2015) Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis. Frontiers in Cellular Neuroscience, 9. 410. ISSN 1662-5102

Wong, C.H., Topp, S., Gkazi, A.S. et al. (12 more authors) (2015) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging , 36 (10). 2908.e17-2908.e18. ISSN 0197-4580

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

Jones, A.R., Troakes, C., King, A. et al. (13 more authors) (2015) Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes. Neurobiology of Aging, 36 (5). 2006.e1-2006.e9. ISSN 0197-4580

Raman, R., Allen, S.P., Goodall, E.F. et al. (11 more authors) (2015) Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions. Neuropathology and Applied Neurobiology, 41 (2). pp. 201-226. ISSN 0305-1846

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

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

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

Highley, J.R. orcid.org/0000-0002-4969-6526, Gebril, O.H., Simpson, J.E. et al. (9 more authors) (2014) Axonal Preservation in Deep Subcortical White Matter Lesions in the Ageing Brain. Journal of Aging Science, 2 (1).

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

Heath, P.R., Kirby, J. and Shaw, P.J. (2013) Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics. Frontiers in Cellular Neuroscience, 7. 259. ISSN 1662-5102

Goodall, E.F., Heath, P.R., Bandmann, O. et al. (2 more authors) (2013) Neuronal dark matter: the emerging role of microRNAs in neurodegeneration. Frontiers in Cellular Neuroscience, 7. 178. ISSN 1662-5102

Kirby, J., Highley, J.R., Cox, L. et al. (8 more authors) (2013) Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 39 (5). pp. 562-571. ISSN 0305-1846

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

Brockington, A., Ning, K., Heath, P.R. et al. (7 more authors) (2013) Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity. Acta Neuropathologica, 125 (1). pp. 95-109. ISSN 0001-6322

Kirby, J., Ning, K., Ferraiuolo, L. et al. (10 more authors) (2011) Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain, 134 (2). pp. 506-517. ISSN 0006-8950

Kirby, J., Goodall, E.F., Smith, W. et al. (10 more authors) (2010) Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics, 11 (2). pp. 217-225. ISSN 1364-6745

Cox, L.E., Ferraiuolo, L., Goodall, E.F. et al. (13 more authors) (2010) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). Plos One, 5 (3). Art no.e9872. ISSN 1932-6203

Proceedings Paper

Gosain, S., Bullement, A. orcid.org/0000-0001-7091-0972, Kirby, J. et al. (3 more authors) (2018) Comparison of pharmacoeconomic (PE) evaluations for drugs for rare diseases (DRDs) evaluated by CADTH and NICE. In: Value in Health. ISPOR Europe 2018: New Perspectives for Improving 21st Century Health Systems, 10-14 Nov 2018, Barcelona, Spain. Elsevier , S465.

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.