Items where authors include "Highley, J.R."

Article

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

Bauer, C.S., Cohen, R.N., Sironi, F. et al. (11 more authors) (2022) An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD. Acta Neuropathologica, 144 (3). pp. 437-464. ISSN 0001-6322

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

Benson, B.C., Shaw, P.J. orcid.org/0000-0002-8925-2567, Azzouz, M. orcid.org/0000-0001-6564-5967 et al. (2 more authors) (2021) Proteinopathies as hallmarks of impaired gene expression, proteostasis and mitochondrial function in amyotrophic lateral sclerosis. Frontiers in Neuroscience, 15. 783624.

Ashford, B.A. orcid.org/0000-0002-9247-3125, Boche, D., Cooper‐Knock, J. et al. (3 more authors) (2021) Review: Microglia in motor neuron disease. Neuropathology and Applied Neurobiology, 47 (2). pp. 179-197. ISSN 0305-1846

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

Wilson, L.A., Heraty, L., Ashford, B.A. orcid.org/0000-0002-9247-3125 et al. (5 more authors) (2021) Tissue microarray (TMA) use in post mortem neuropathology. Journal of Neuroscience Methods, 347. 108963. ISSN 0165-0270

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

Wharton, S.B., Verber, N.S., Wagner, B.E. et al. (6 more authors) (2019) Combined FUS+ basophilic inclusion body disease and atypical tauopathy presenting with an ALS/MND-plus phenotype. Neuropathology and Applied Neurobiology, 45 (6). pp. 586-596. ISSN 0305-1846

Mozumder, M., Pozo, J.M., Coelho, S. et al. (5 more authors) (2019) Quantitative histomorphometry of capillary microstructure in deep white matter. NeuroImage: Clinical, 23. 101839. ISSN 2213-1582

Coelho, S., Pozo, J.M., Costantini, M. et al. (5 more authors) (2019) Histological data of axons, astrocytes, and myelin in deep subcortical white matter populations. Data in Brief, 23. 103762. ISSN 2352-3409

López, K.L.R., Simpson, J.E. orcid.org/0000-0002-3753-4271, Watson, L.C. et al. (4 more authors) (2019) TIGAR inclusion pathology is specific for Lewy body diseases. Brain Research, 1706. pp. 218-223. ISSN 0006-8993

An, H., Skelt, L., Notaro, A. et al. (5 more authors) (2019) ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles. Acta Neuropathologica Communications, 7. 7. ISSN 2051-5960

Waller, R. orcid.org/0000-0001-5815-8829, Baxter, L., Fillingham, D.J. et al. (7 more authors) (2019) Iba-1-/CD68+ microglia are a prominent feature of age-associated deep subcortical white matter lesions. PLoS One, 14 (1). e0210888. ISSN 1932-6203

Coelho, S. orcid.org/0000-0002-1039-4803, Pozo, J.M., Costantini, M. et al. (5 more authors) (2018) Local volume fraction distributions of axons, astrocytes, and myelin in deep subcortical white matter. NeuroImage, 179. pp. 275-287. ISSN 1053-8119

Olubajo, F., Yermakova, T., Highley, J.R. orcid.org/0000-0002-4969-6526 et al. (1 more author) (2017) Concomitant idiopathic hypertrophic spinal pachymeningitis and Guillain-Barre syndrome in a patient: coincidence or a triggering mechanism? Journal of Neurosurgery: Spine, 27 (3). pp. 335-340. ISSN 1547-5654

Tu, W.Y., Simpson, J.E., Highley, J.R. et al. (1 more author) (2017) Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. Neurobiology of Disease, 102. pp. 11-20. ISSN 0969-9961

Boyd, P.J., Tu, W.Y. orcid.org/0000-0002-2671-471X, Shorrock, H.K. et al. (14 more authors) (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genetics, 13 (4). e1006744. ISSN 1553-7390

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

Keatinge, M., Bui, H., Menke, A. et al. (23 more authors) (2015) Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death. Human Molecular Genetics, 24 (23). pp. 6640-6652. ISSN 0964-6906

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

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

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

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).

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

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

Proceedings Paper

Waller, S., Baxter, L., Fillingham, D. et al. (7 more authors) (2019) Iba-1-/CD68+microglia are a prominent feature of age-associated deep subcortical white matter lesions. In: Neuropathology and Applied Neurobiology. 120th Meeting of the British Neuropathological Society, Developmental Neuropathology Symposium, 06-08 Mar 2019, London, UK. Wiley , p. 33.

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.