Items where authors include "Shaw, P.J."

Article

Bell, S.M. orcid.org/0000-0002-2781-6478, Wareing, H. orcid.org/0000-0003-0785-4116, Capriglia, F. orcid.org/0000-0001-7113-1276 et al. (14 more authors) (2025) Increasing hexokinase 1 expression improves mitochondrial and glycolytic functional deficits seen in sporadic Alzheimer’s disease astrocytes. Molecular Psychiatry, 30 (4). pp. 1369-1382. ISSN 1359-4184

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

Webster, C.P. orcid.org/0000-0003-4197-2036, Hall, B. orcid.org/0009-0008-4274-9796, Crossley, O.M. et al. (14 more authors) (2025) RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD. Life Science Alliance, 8 (2). e202402757. ISSN 2575-1077

McKinnon, S., Qiang, Z., Keerie, A. et al. (4 more authors) (2025) Maximizing the translational potential of neurophysiology in amyotrophic lateral sclerosis: a study on compound muscle action potentials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

Yildiz, O., Hunt, G.P. orcid.org/0000-0002-5217-2678, Schroth, J. et al. (9 more authors) (2025) Lipid-mediated resolution of inflammation and survival in amyotrophic lateral sclerosis. Brain Communications, 7 (1). fcae402. ISSN 2632-1297

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

Wood, G.K. orcid.org/0000-0001-6098-2331, Sargent, B.F. orcid.org/0000-0003-2262-7755, Ahmad, Z.-U.-A. orcid.org/0000-0002-6940-8851 et al. (173 more authors) (2025) Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction. Nature Medicine, 31. pp. 245-257. ISSN 1078-8956

Qiang, Z., Barnett, L., Bingham, G. et al. (7 more authors) (2024) The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England. Journal of Neurology, 272 (1). 35. ISSN 0340-5354

Aragón-González, A., Shaw, A.C. orcid.org/0000-0002-7321-7994, Kok, J.R. et al. (9 more authors) (2024) C9ORF72 patient-derived endothelial cells drive blood-brain barrier disruption and contribute to neurotoxicity. Fluids and Barriers of the CNS, 21 (1). 34. ISSN 2045-8118

O’Brien, D. and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2024) New developments in the diagnosis and management of motor neuron disease. British Medical Bulletin, 152 (1). pp. 4-15. ISSN 0007-1420

Burrows, D.J. orcid.org/0000-0002-5833-9379, McGown, A., Abduljabbar, O. et al. (4 more authors) (2024) RAN translation of C9orf72-related dipeptide repeat proteins in zebrafish recapitulates hallmarks of amyotrophic lateral sclerosis and identifies hypothermia as a therapeutic strategy. Annals of Neurology, 96 (6). pp. 1058-1069. ISSN 0364-5134

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

Wiseman, J.P., Scarrott, J.M. orcid.org/0000-0002-6046-7687, Alves-Cruzeiro, J. et al. (21 more authors) (2024) Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47. EMBO Molecular Medicine, 16 (11). pp. 2882-2917. ISSN 1757-4676

Vrellaku, B., Sethw Hassan, I., Howitt, R. et al. (12 more authors) (2024) A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders. Molecular Therapy, 32 (10). pp. 3220-3259. ISSN 1525-0016

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Stockholm, D. et al. (3 more authors) (2024) In vivo raman spectroscopy of muscle is highly sensitive for detection of healthy muscle and highly specific for detection of disease. Analytical Chemistry, 96 (40). pp. 15991-15997. ISSN 0003-2700

Au, W.H. orcid.org/0009-0006-1068-9560, Miller-Fleming, L. orcid.org/0000-0002-3593-6461, Sanchez-Martinez, A. orcid.org/0000-0002-2728-6251 et al. (9 more authors) (2024) Activation of the Keap1/Nrf2 pathway suppresses mitochondrial dysfunction, oxidative stress, and motor phenotypes in C9orf72 ALS/FTD models. Life Science Alliance, 7 (9). e202402853. ISSN 2575-1077

Marriott, H. orcid.org/0000-0003-1231-2880, Spargo, T.P., Al Khleifat, A. orcid.org/0000-0002-7406-9831 et al. (26 more authors) (2024) Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS. Annals of Clinical and Translational Neurology, 11 (7). pp. 1775-1786. ISSN 2328-9503

Gould, R.L., McDermott, C.J., Thompson, B.J. orcid.org/0000-0002-5516-8797 et al. (29 more authors) (2024) Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK. The Lancet, 403 (10442). pp. 2381-2394. ISSN 0140-6736

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

Conwill, M.T., Alix, J.J.P. orcid.org/0000-0001-8391-9749 and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2024) Hyperexcitability of the asymptomatic motor cortex in a case of Mills' syndrome. Muscle & Nerve, 69 (6). pp. 733-734. ISSN 0148-639X

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Dudgeon, A.P. orcid.org/0000-0002-4536-1147 et al. (9 more authors) (2024) Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology. The Analyst, 149 (9). pp. 2738-2746. ISSN 0003-2654

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

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

Rawlinson, C., Gould, R.L., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (27 more authors) (2024) Experiences of acceptance and commitment therapy for people living with motor neuron disease (MND): a qualitative study from the perspective of people living with MND and therapists. The Cognitive Behaviour Therapist, 17. e36. ISSN 1754-470X

Michael, B.D. orcid.org/0000-0002-8693-8926, Dunai, C. orcid.org/0000-0001-5799-2387, Needham, E.J. orcid.org/0000-0001-7042-7462 et al. (559 more authors) (2023) Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses. Nature Communications, 14 (1). 8487. ISSN 2041-1723

Richardson, P.J. orcid.org/0000-0001-7813-041X, Smith, D.P., de Giorgio, A. et al. (6 more authors) (2023) Janus kinase inhibitors are potential therapeutics for amyotrophic lateral sclerosis. Translational Neurodegeneration, 12 (1). 47. ISSN 2047-9158

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (2 more authors) (2023) Combining electromyography and Raman spectroscopy: optical EMG. Muscle & Nerve, 68 (4). pp. 464-470. ISSN 0148-639X

Van Daele, S.H. orcid.org/0000-0002-3005-3619, Moisse, M., van Vugt, J.J.F.A. orcid.org/0000-0002-4161-4004 et al. (31 more authors) (2023) Genetic variability in sporadic amyotrophic lateral sclerosis. Brain, 146 (9). pp. 3760-3769. ISSN 0006-8950

Mehta, P.R. orcid.org/0000-0002-0255-407X, Jones, A.R., Opie-Martin, S. et al. (11 more authors) (2023) Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias. Journal of Neurology, Neurosurgery and Psychiatry, 90 (3). pp. 268-271. ISSN 0022-3050

Gould, R.L. orcid.org/0000-0001-9283-1626, Rawlinson, C., Thompson, B. et al. (43 more authors) (2023) Acceptance and commitment therapy for people living with motor neuron disease: an uncontrolled feasibility study. Pilot and Feasibility Studies, 9. 116. ISSN 2055-5784

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

Toh, C., Keslake, A., Payne, T. et al. (7 more authors) (2023) Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease. Journal of Neurology, 270 (3). pp. 1682-1690. ISSN 0340-5354

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Schooling, C.N. et al. (9 more authors) (2023) Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue. Journal of Raman Spectroscopy, 54 (3). pp. 258-268. ISSN 0377-0486

Cooper‐Knock, J., Julian, T.H., Feneberg, E. et al. (15 more authors) (2023) Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology, 33 (1). e13104. ISSN 1015-6305

Gandhi, R., Selvarajah, D., Sloan, G. et al. (5 more authors) (2023) Preservation of thalamic neuronal function may be a prerequisite for pain perception in diabetic neuropathy: a magnetic resonance spectroscopy study. Frontiers in Pain Research, 3. 1086887. ISSN 2673-561X

Balendra, R., Jones, A.R., Al Khleifat, A. et al. (7 more authors) (2023) Comparison of King’s clinical staging in multinational amyotrophic lateral sclerosis cohorts. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (1-2). pp. 71-81. ISSN 2167-8421

Yildiz, O., Schroth, J., Tree, T. et al. (4 more authors) (2023) Senescent-like blood lymphocytes and disease progression in amyotrophic lateral sclerosis. Neurology: Neuroimmunology & Neuroinflammation, 10 (1). ISSN 2332-7812

Bauer, C.S., Webster, C.P., Shaw, A.C. et al. (12 more authors) (2022) Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation. Frontiers in Cellular Neuroscience, 16. 1061559. ISSN 1662-5102

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

Aragón-González, A., Shaw, P.J. and Ferraiuolo, L. orcid.org/0000-0001-9118-5714 (2022) Blood–brain barrier disruption and its involvement in neurodevelopmental and neurodegenerative disorders. International Journal of Molecular Sciences, 23 (23). 15271. ISSN 1422-0067

Provenzano, F., Nyberg, S., Giunti, D. et al. (10 more authors) (2022) Micro-RNAs shuttled by extracellular vesicles secreted from mesenchymal stem cells dampen astrocyte pathological activation and support neuroprotection in in-vitro models of ALS. Cells, 11 (23). 3923. ISSN 2073-4409

Mehta, P.R. orcid.org/0000-0002-0255-407X, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Opie-Martin, S. et al. (31 more authors) (2022) The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. Brain, 145 (12). pp. 4440-4447. ISSN 0006-8950

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Verber, N.S., Schooling, C.N. et al. (5 more authors) (2022) Label-free fibre optic Raman spectroscopy with bounded simplex-structured matrix factorization for the serial study of serum in amyotrophic lateral sclerosis. The Analyst, 147 (22). pp. 5113-5120. ISSN 0003-2654

Gould, R.L., Thompson, B.J. orcid.org/0000-0002-5516-8797, Rawlinson, C. et al. (15 more authors) (2022) A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol. BMC Neurology, 22 (1). 431. ISSN 1471-2377

Opie-Martin, S., Iacoangeli, A., Topp, S.D. et al. (46 more authors) (2022) The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nature Communications, 13 (1). 6901. ISSN 2041-1723

Gao, J., Dharmadasa, T., Malaspina, A. et al. (4 more authors) (2022) Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis. Journal of Neurology, 269. pp. 5395-5404. ISSN 0340-5354

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

Miller, T.M., Cudkowicz, M.E., Genge, A. et al. (23 more authors) (2022) Trial of antisense oligonucleotide tofersen for SOD1 ALS. New England Journal of Medicine, 387 (12). pp. 1099-1110. ISSN 0028-4793

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Hool, S.A. et al. (5 more authors) (2022) Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle. Muscle and Nerve, 66 (3). pp. 362-369. ISSN 0148-639X

Marrone, L., Marchi, P.M. orcid.org/0000-0002-8893-3790, Webster, C.P. orcid.org/0000-0003-4197-2036 et al. (11 more authors) (2022) SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics, 31 (16). pp. 2693-2710. ISSN 0964-6906

Schooling, C.N., Healey, T.J., McDonough, H.E. et al. (5 more authors) (2022) Tensor electrical impedance myography identifies bulbardisease progression in amyotrophic lateral sclerosis. Clinical Neurophysiology, 139. pp. 69-75. ISSN 1388-2457

Alix, J. orcid.org/0000-0001-8391-9749, Plesia, M., Lloyd, G.R. et al. (9 more authors) (2022) Rapid identification of human muscle disease with fibre optic Raman spectroscopy. Analyst, 2022 (11). 147. pp. 2533-2540. ISSN 0003-2654

Gomes, C., Sequeira, C., Likhite, S. et al. (7 more authors) (2022) Neurotoxic astrocytes directly converted from sporadic and familial ALS patient fibroblasts reveal signature diversities and miR-146a theragnostic potential in specific subtypes. Cells, 11 (7). 1186. ISSN 2073-4409

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

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Lloyd, G.R. et al. (7 more authors) (2022) The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease : a preliminary comparison between fibre optic probe and microscope formats. Journal of Raman Spectroscopy, 53 (2). pp. 172-181. ISSN 0377-0486

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.

Anton, A. orcid.org/0000-0002-1356-4513, Mead, R.J. orcid.org/0000-0002-3207-0068, Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (6 more authors) (2022) Assessment of the precision in measuring glutathione at 3 T with a MEGA-PRESS sequence in primary motor cortex and occipital cortex. Journal of Magnetic Resonance Imaging, 55 (2). pp. 435-442. ISSN 1053-1807

Chan, Y., Alix, J.J.P. orcid.org/0000-0001-8391-9749, Neuwirth, C. et al. (9 more authors) (2022) Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis but not all muscles reinnervate. Muscle & Nerve, 65 (2). pp. 203-210. ISSN 0148-639X

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

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.

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

Schooling, C.N. orcid.org/0000-0001-7892-9715, Healey, T.J., McDonough, H.E. et al. (5 more authors) (2021) Tensor electrical impedance myography identifies clinically relevant features in amyotrophic lateral sclerosis. Physiological Measurement, 42 (10). 105004. ISSN 0967-3334

van Eijk, R.P.A., Nikolakopoulos, S., Roes, K.C.B. et al. (14 more authors) (2021) Innovating clinical trials for amyotrophic lateral sclerosis : challenging the established order. Neurology, 97 (11). pp. 528-536. ISSN 0028-3878

Gerou, M., Hall, B., Woof, R. et al. (5 more authors) (2021) Amyotrophic lateral sclerosis alters the metabolic aging profile in patient derived fibroblasts. Neurobiology of Aging, 105. pp. 64-77. ISSN 0197-4580

Jiménez-Villegas, J., Ferraiuolo, L. orcid.org/0000-0001-9118-5714, Mead, R.J. orcid.org/0000-0002-3207-0068 et al. (3 more authors) (2021) NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS. Free Radical Biology and Medicine, 173. pp. 125-141. ISSN 0891-5849

Watkins, J.A., Alix, J.J.P., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (1 more author) (2021) Extensive phenotypic characterisation of a human TDP-43^Q331K transgenic mouse model of amyotrophic lateral sclerosis (ALS). Scientific Reports, 11 (1). 16659.

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

Castelli, L.M., Cutillo, L., Souza, C.D.S. et al. (14 more authors) (2021) SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export : genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 16 (1). 53.

Ciervo, Y., Gatto, N., Allen, C. et al. (4 more authors) (2021) Adipose-derived stem cells protect motor neurons and reduce glial activation in both in vitro and in vivo models of ALS. Molecular Therapy — Methods & Clinical Development, 21. pp. 413-433. ISSN 2329-0501

Pham, T.K., Buczek, W.A., Mead, R.J. orcid.org/0000-0002-3207-0068 et al. (2 more authors) (2021) Proteomic approaches to study cysteine oxidation: applications in neurodegenerative diseases. Frontiers in Molecular Neuroscience, 14. 678837. ISSN 1662-5099

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

Plesia, M., Stevens, O.A., Lloyd, G.R. et al. (8 more authors) (2021) In vivo fiber optic raman spectroscopy of muscle in preclinical models of amyotrophic lateral sclerosis and Duchenne muscular dystrophy. ACS Chemical Neuroscience, 12 (10). pp. 1768-1776. ISSN 1948-7193

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

Moisse, M., Zwamborn, R.A.J., Vugt, J. et al. (33 more authors) (2021) The effect of SMN gene dosage on ALS risk and disease severity. Annals of Neurology, 89 (4). pp. 686-697. ISSN 0364-5134

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

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

Gatto, N., Dos Santos Souza, C., Shaw, A.C. et al. (12 more authors) (2021) Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease. Aging Cell, 20 (1). e13281. ISSN 1474-9718

Bell, S.M., Barnes, K., De Marco, M. orcid.org/0000-0002-9240-8067 et al. (5 more authors) (2021) Mitochondrial dysfunction in Alzheimer’s disease : a biomarker of the future? Biomedicines, 9 (1). 63.

Bury, J.J., Chambers, A., Heath, P.R. et al. (6 more authors) (2021) Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain. Acta Neuropathologica Communications, 9 (1). 5.

Bell, S.M., De Marco, M. orcid.org/0000-0002-9240-8067, Barnes, K. et al. (5 more authors) (2020) Do deficits in mitochondrial spare respiratory capacity contribute to neuropsychological changes seen in Alzheimer’s disease? Alzheimer's & Dementia, 16 (S6). e037527. ISSN 1552-5260

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

Hop, P.J., Zwamborn, R.A.J., Hannon, E.J. et al. (17 more authors) (2020) Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies. NAR Genomics and Bioinformatics, 2 (4). lqaa105. ISSN 2631-9268

Schooling, C.N., Jamie Healey, T., McDonough, H.E. et al. (5 more authors) (2020) Modelling and analysis of electrical impedance myography of the lateral tongue. Physiological Measurement, 41 (12). 125008. ISSN 0967-3334

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Little, D., Valori, C.F., Mutsaers, C.A. et al. (7 more authors) (2015) PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy. Molecular Therapy, 23 (2). 270 - 277.

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Ramesh, T.M., Shaw, P.J. and McDearmid, J. (2014) A zebrafish model exemplifies the long preclinical period of motor neuron disease. Journal of Neurology, Neurosurgery and Psychiatry, 85 (11). 1288-U128. ISSN 0022-3050

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McGeachan, A.J., Hobson, E.V., Shaw, P.J. et al. (1 more author) (2014) Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (1-2). pp. 108-113. ISSN 2167-8421

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Book Section

Evans, L.J. orcid.org/0000-0002-8317-2013, O’Brien, D. and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2024) Current neuroprotective therapies and future prospects for motor neuron disease. In: Shaw, P.J. and Kirby, J., (eds.) International Review of Neurobiology. Elsevier , pp. 327-384.

Allen, C., Shaw, P.J. and Ferraiuolo, L. orcid.org/0000-0001-9118-5714 (2017) Can astrocytes be a target for precision medicine? In: El-Khamisy, S., (ed.) Personalised Medicine. Advances in Experimental Medicine and Biology (1007). Springer . ISBN 978-3-319-60731-3

Chandran, J.S., Scarrott, J.M., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (1 more author) (2017) Gene Therapy in the Nervous System: Failures and Successes. In: Personalised Medicine. Advances in Experimental Medicine and Biology (1007). , pp. 241-257. ISBN 978-3-319-60731-3

Proceedings Paper

Allen, S.P., Hall, B., Castelli, L. orcid.org/0000-0003-3620-4219 et al. (11 more authors) (2018) Inosine reverses motor neuron toxicity observed in amyotrophic lateral sclerosis patient astrocytes with an adenosine deaminase deficiency. In: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 20th European Bioenergetics Conference, 25-30 Aug 2018, Budapest, Hungary. Elsevier BV , e23-e23.

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.

Iannitti, T., Scarrot, J.M., Coldicott, I.R.P. et al. (4 more authors) (2016) Gene Therapy for Familial ALS Using AAV9 Mediated Silencing of Mutant SOD1. In: Human Gene Therapy. British Society for Gene and Cell Therapy Annual Conference, 15th April 2016, University College London Institute of Child Health. Mary Ann Liebert Inc , A12-A12.

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.

Selvarajah, D., Wilkinson, I.D., Emery, C.J. et al. (3 more authors) (2004) Spinal cord atrophy in diabetic neuropathy, a comparison with healthy volunteers and hereditary sensory motor neuropathy. In: Diabetologia. 40th EASD Annual Meeting of the European Association for the Study of Diabetes, 05-09 Sep 2004, Munich, Germany. Springer , A35-A36.

Preprint

Pham, T.K. orcid.org/0000-0002-8083-0631, Verber, N. orcid.org/0000-0002-1428-7917, Turner, M.R. orcid.org/0000-0003-0267-3180 et al. (4 more authors) (2024) Glutathione oxidation in cerebrospinal fluid as a biomarker of oxidative stress in Amyotrophic Lateral Sclerosis. [Preprint] (Submitted)

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)