2025
Langerová T*, MacVicar E*, Press R, Read FL, Piana M, Murdoch S, Innes J, Wilson J, Watson AJM, Waldron FM‡, Ramsay G‡, Gregory JM‡. Protein misfolding in the gastrointestinal tract predicts and prognosticates neurodegenerative disease years before symptom onset. medRxiv 2025. DOI: 10.1101/2025.10.13.25337884. *equal contributions, ‡equal contributions.
Waldron FM*, Spence H*, Taso OS, Read FL, Sinha IR, Irwin KE, Wong PC, Ling JP, Gregory JM. Brain Iron as a Surrogate Biomarker of Pathological TDP-43 Identifies Brain Region-Specific Signatures in Ageing, Alzheimer’s Disease and Amyotrophic Lateral Sclerosis. bioRxiv 2025 DOI: 2025.10.02.680028. *equal contributions.
Waldron FM, Langerová T, Rahmanova A, Read FL, Spence H, Roberts K, Macleod AD, Pattle SB, Hanna K‡, Gregory JM‡. Skin TDP-43 pathology as a candidate biomarker for predicting amyotrophic lateral sclerosis decades prior to motor symptom onset. bioRxiv 2025 DOI: 10.1101/2025.04.10.648122. ‡equal contributions and co -corresponding authors. This is version 2 of this bioRxiv (2025) preprint.
Cox D, Burke M, Milani S, White MA, Waldron FM, Böken D, Lobanova E, Sreedharan J, Gregory JM, Klenerman, D. Quantitative Profiling of Nanoscopic Protein Aggregates Reveals Specific Fingerprint of TDP‐43‐Positive Assemblies in Motor Neuron Disease. Advanced Science 2025. DOI: 10.1002/advs.202505484 [See here for associated preprint (2025)].
Carletta O, Perfetto C, Rifai OM, Manganelli F, Waldron FM, Maniatis T, Gregory JM, Gerbino VG. Genotype-specific interferon signatures in amyotrophic lateral sclerosis relate to disease severity. Brain 2025 Sep 5: awaf324. DOI: 10.1093/brain/awaf324. This paper was recognized with the 2025 (17th) Paulo Gontijo Award, an international prize that honors outstanding research in amyotrophic lateral sclerosis (ALS), which will be presented to the winner, Dr. Valeria Gerbino, during the International Symposium on ALS/MND organized by MND Association.
Balendra R, Sreedharan J, Hallegger M, Luisier R, Lashuel HA, Gregory JM, Patani R. Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy. Lancet Neurology 2025 May;24(5):456-470. doi: 10.1016/S1474-4422(25)00109-7.
Sinha IR, Sandal PS, Spence H, Burns GD, Mallika AP, Abbasinejad F, Irwin KE, Cruz ALF, Wang V, Rodríguez JL, Langmead B, Gregory JM, Wong PC, Ling JP. Large-scale RNA-seq mining reveals ciclopirox triggers TDP-43 cryptic exons. Nature Communications 2025. 25;16(1):6878. DOI: 10.1038/s41467-025-62004-5.
Johnstone AM, Albanese E, Crabtree DR,Dalile B, Grabrucker S, Gregory JM, Grosso G, Holliday A, Hughes C, Itsiopoulos C, Mamo J, McEvoy C, Myint PH, Pereira LR, Vauzour D, Siervo M. Consensus statement on exploring the Nexus between nutrition, brain health and dementia prevention. Nutrition & Metabolism 2025. 22, 82. DOI: 10.1186/s12986-025-00981-6.
Cassel R, Lorenc F, Bombardier A, De Tapia C, Dieterle S, Gouveia-Roque C, Jackson CA, Stuart-Lopez G, Rouaux C, Guillot SJ, Birling M-C, Kessler P, Grassano M, Traynor BJ, Chio A, Roy R, Shorter J, Waldron FM, Gregory JM, Phatnani H, Dupuis L, Megat S. FUS mislocalization rewires a cortical gene network to drive cognitive and behavioral impairment in ALS. medRxiv 2025. DOI: 10.1101/2025.06.16.25329673
Zacco E, Gilodi M, Armaos A, Waldron FM, Rupert J, Schneider NA, Gregory JM, Tartaglia GG. Computationally designed RNA aptamers enable selective detection of FUS pathology in ALS. bioRxiv 2025. DOI: 10.1101/2025.04.30.651570.
Waldron FM, Langerová T, Read FL, Spence H, Hanna K, Roberts K, Pattle SB, Gregory JM. Improved detection of pre-symptomatic, non-central nervous system TDP-43 pathology in amyotrophic lateral sclerosis using RNA aptamer. bioRxiv 2025. DOI: 10.1101/2025.04.10.648122. This is version 1 of this bioRxix (2025) preprint.
Xia Y, Gregory JM, Waldron FM, Spence H, Vallejo M. Improving ALS detection and cognitive impairment stratification with attention-enhanced deep learning models. Scientific Reports 2025. 15, 7045. DOI: 10.1038/s41598-025-90881-9. [See here for associated preprint (2024)].
Cox D, Burke M, Milani S, White MA, Waldron FM, Böken D, Lobanova E, Sreedharan J, Gregory JM, Klenerman, D. Fingerprinting disease-derived protein aggregates reveals unique signature of Motor Neuron Disease. bioRxiv 2025. DOI: 10.1101/2025.03.04.641150 [Published in Advanced Science here in 2025].
Petrescu J, Roque CG, Jackson CA, Daly A, Kang K, Casel O, Leung M, Reilly L, Eschbach J, McDade K, Gregory JM, Smith C, Phatnani H. Differential cellular mechanisms underlie language and executive decline in amyotrophic lateral sclerosis. bioRxiv 2025. DOI: 10.1101/2025.02.26.640433.
Krispin S, van Zuiden W, Danino YM, Molitor L, Rudberg N, Bar C, Coyne A, Meimoun T, Waldron FM, Gregory JM, Fisher T, Nachshon A, Stern-Ginossar N, Yacovzada N, Hornstein E. Organellomics: AI-driven deep organellar phenotyping reveals novel ALS mechanisms in human neurons. bioRxiv 2025. DOI: 10.1101/2024.01.31.572110.
Johnson H, Longden J, Cameron G, Waiter GD, Waldron FM, Gregory JM, Spence H. Machine learning identifies routine blood tests as accurate predictive measures of pollution-dependent poor cognitive function. bioRxiv 2025. DOI: 10.1101/2025.01.10.632396.
2024
Xia Y, Gregory JM, Waldron FM, Spence H, Vallejo M. Integrating transfer learning and attention mechanisms for accurate ALS diagnosis and cognitive impairment detection. medRxiv 2024 DOI: 10.1101/2024.09.22.24313406 [Published in Scientific Reports here in 2025].
Rifai OM, Waldron FM, Sleibi D, O’Shaughnessy J, Leighton DJ*, Gregory JM*‡. Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis. Brain Pathology 2024; e13287. DOI: 10.1111/bpa.13287., *equal contributions, ‡corresponding author.
Rifai OM*, Waldron FM*, O’Shaughnessy J, Read FL, Gilodi M, Pastore A, Shneider N, Tartaglia GG, Zacco E, Spence H¥, Gregory JM¥. Amygdala TDP-43 pathology is associated with behavioural dysfunction and ferritin accumulation in amyotrophic lateral sclerosis. bioRxiv 2024; doi: https://doi.org/10.1101/2024.06.01.596819; *equal contributions; ¥equal contributions and co-corresponding authors.
Spence H*, Waldron FM*, Saleeb RS, Brown AL, Rifai OM, Gilodi M, Read F, Roberts K, Milne G, Wilkinson D, O’Shaughnessy J, Pastore A, Fratta P, Shneider N, Tartaglia GG, Zacco E, Horrocks MH, Gregory JM. RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS. Acta Neuropathologica 2024; Mar 5;147(1):50 [See here for associated preprint (2024), and here for associated laboratory SOP for TDP-43 RNA aptamer staining in FFPE human tissue]. *equal contributions.
2023
Spence H*, Waldron FM*, Saleeb RS, Brown A-L, Rifai OM, Gilodi M, Read F, Roberts K, Milne G, Wilkinson D, O’Shaughnessy J, Pastore A, Fratta P, Shneider N, Tartaglia GG, Zacco E, Horrocks MH, Gregory JM. RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS. bioRxiv 2023; 10.24.563701. *equal contributions [Published in Acta Neuropathologica here in 2024].
Rifai OM, O’Shaughnessy J, Dando OR, Munro AF, Sewell MDE, Abrahams S, Waldron FM, Sibley CR, Gregory JM. Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts. Brain 2023; 146(12):5124-5138 [See here for associated preprint (2023].
Elasifer H, Amukwaya MMN, Bhatia R, Cuschieri K, Gregory JM. The role of circulating viral and tumour DNA in the diagnosis and management of HPV associated anogenital cancers, a systematic review and meta-analysis. Journal of Clinical Virology 2023; 164: 105469.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory JM, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S, the Lothian Birth Cohorts Group & and the CARE-MND Consortium. Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland. Journal of Neurology 2023. Mar;270(3):1702-1712.
Wong C, Gregory JM, Liao J, … and 33 others. Systematic, comprehensive, evidence-based approach to identify neuroprotective interventions for motor neuron disease: using systematic reviews to inform expert consensus. BMJ Open 2023; 13:e064169 [See here for associated preprint].
Pattle SB, O’Shaughnessy J, Kantelberg O, Rifai OM, Pate J, Nellany K, Hays N, Arends MJ, Horrocks MH, Waldron FM, Gregory JM. pTDP-43 aggregates accumulate in non-central nervous system tissues prior to symptom onset in amyotrophic lateral sclerosis: a case series linking archival surgical biopsies with clinical phenotypic data. Journal of Pathology: Clinical Research 2023; 9: 44-55 [see here for associated preprint (2022].
Rifai OM, O’Shaughnessy J, Dando OR, Munro AF, Sewell MDE, Abrahams S, Waldron FM, Sibley CR, Gregory JM. Distinct neuroinflammatory signatures exist across genetic and sporadic ALS cohorts. bioRxiv 2023; 2023.01.19.524561 [Published in Brain here in 2023].
2022
Rifai OM, Longden J, O’Shaughnessy J, Sewell MDE, Pate J, McDade K, Daniels MJD, Abrahams S, Chandran S, McColl BW, Sibley CR, Gregory JM. Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72-ALS. Journal of Pathology 2022; Dec;258(4):366-381 [see here for associated preprint (2021)].
Wong C, Dakin RS, Williamson J, Newton J, Steven M, Colville S, Stavrou M, Gregory JM, Elliott E, Mehta AR, Chataway J, Swingler RJ, Parker RA, Weir CJ, Stallard N, Parmar MKB, Macleod MR, Pal S, Chandran S. Motor Neuron Disease Systematic Multi-Arm Adaptive Randomised Trial (MND-SMART): a multi-arm, multi-stage, adaptive, platform, phase III randomised, double-blind, placebo-controlled trial of repurposed drugs in motor neuron disease. BMJ Open 2022; 12: e064173.
Zacco E, Kantelberg O, Milanetti E, Armaos A, Panei FP, Gregory JM, Jeacock K, Chandran S, Clarke D, Ruocco G, Gustincich S, Horrocks M, Pastore A, Tartaglia GG. Probing TDP-43 condensation using an in silico designed aptamer. Nature Communications 2022; 13: 3306.
Wong C, Gregory JM, Liao J, Egan K, Vesterinen HM, Khan AA, Anwar M, Beagan C, Brown F, Cafferkey J, Cardinali A, Chiam JY, Chiang C, Collins V, Dormido J, … and 36 others. A systematic approach to identify neuroprotective interventions for motor neuron disease. medRxiv 2022; 2022.04.13.22273823.
Pattle SB, O’Shaughnessy J, Rifai OM, Pate J, Arends MJ, Waldron FM, Gregory JM. pTDP-43 aggregates accumulate in the gut and other non-central nervous system tissues prior to symptom onset in amyotrophic lateral sclerosis. bioRxiv 2022; 2022.03.17.484805 [Published in Journal of Pathology: Clinical Research here in 2022].
Jiwaji Z, Tiwari SS, Avilés-Reyes RX, Hooley M, Hampton D, Torvell M, Johnson DA, McQueen J, Baxter P, Sabari-Sankar K, Qiu J, He X, Fowler J, Febery J, Gregory JM, and 33 others. Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology. Nature Communications 2022; 13(1):135.
Banerjee P, Elliott E, Rifai OM, O’Shaughnessy J, McDade K, Abrahams S, Chandran S, Smith C, Gregory JM. NLRP3 inflammasome as a key molecular target underlying cognitive resilience in amyotrophic lateral sclerosis. Journal of Pathology 2022; 256(3):262-268. [click here for associated Invited Commentary; Mehta, P.R., Lashley, T., Fratta, P. and Bampton, A. Markers of cognitive resilience and a framework for investigating clinical heterogeneity in ALS. Journal of Pathology 2022; 257: 251-254].
2021
Rifai OM, Longden J, O’Shaughnessy J, Sewell MDE, McDade K, Daniels MJD, Abrahams S, Chandran S, McColl B, Sibley CR, Gregory JM. Random forest modelling of neuropathological features identifies microglial activation as an accurate pathological classifier of C9orf72-related amyotrophic lateral sclerosis. bioRxiv 2021: 2021.12.10.471808 [Published in Journal of Pathology here in 2022].
Wong C, Stavrou M, Elliott E, Gregory JM, Leigh N, Pinto AA, Williams TL, Chataway J, Swingler R, Parmar MKB, Stallard N, Weir CJ, Parker RA, Chaouch A, Hamdalla H, and 24 others. Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective. Brain Communications 2021; 3(4):fcab242.
Ng Kee Kwong KC, Harbham PK, Selvaraj BT, Gregory JM, Pal S, Hardingham GE, Chandran S, Mehta AR. 40 years of CSF toxicity studies in ALS: what have we learnt about ALS pathophysiology? Frontiers in Molecular Neuroscience 2021; 14:647895.
Mehta AR, Gregory JM, Dando O, Carter RN, Burr K, Nanda J, Story D, McDade K, Smith C, Morton NM, Mahad DJ, Hardingham GE, Chandran S, Selvaraj BT. Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis. Acta Neuropathologica 2021; 141(2):257-279.
Barton SK, Magnani D, James OG, Livesey MR, Selvaraj BT, James OT, Perkins EM, Gregory JM, Cleary E, Ausems CRM, Carter RNC, Vasistha NA, Zhao C, Burr K, Story D, and 5 others. Transactive response DNA-binding protein-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model. Brain Communications 2021; 3(4):fcab255.
Barton SK*, Gregory JM*, Selvaraj BT, McDade K, Henstridge CM, Spires-Jones TL, James OG, Mehta AR, Story D, Burr K, Magnani D, Isaacs AM, Smith C, Chandran S. Dysregulation in subcellular Localization of myelin basic protein mRNA does not result in altered myelination in amyotrophic lateral sclerosis. Frontiers in Neuroscience 2021; 15:705306. *equal contributions
2020
Ng Kee Kwong KC, Gregory JM, Pal S, Chandran S, Mehta AR. Cerebrospinal fluid cytotoxicity in amyotrophic lateral sclerosis: a systematic review of in vitro studies. Brain Communications 2020; 2(2):fcaa121.
Mehta AR, Selvaraj BT, Barton SK, McDade K, Abrahams S, Chandran S, Smith C, Gregory JM. Improved detection of RNA foci in C9orf72 amyotrophic lateral sclerosis post-mortem tissue using BaseScope™ shows a lack of association with cognitive dysfunction. Brain Communications 2020; 2(1):fcaa009.
Gregory JM, McDade K, Livesey MR, Croy I, Marion de Proce S, Aitman T, Chandran S, Smith C. Spatial transcriptomics identifies spatially dysregulated expression of GRM3 and USP47 in amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology 2020; 46(5):441-457. [top 10 most downloaded article in Neuropathology and Applied Neurobiology in 12 months following online publication]
Gregory JM, McDade K, Bak TH, Pal S, Chandran S, Smith C, Abrahams S. Executive, language and fluency dysfunction are markers of localised TDP-43 cerebral pathology in non-demented ALS. Journal of Neurology, Neurosurgery and Psychiatry 2020; 91(2):149-157. [click here for associated Editorial Commentary; Lulé DE, Ludolph AC. In vivo tracking of TDP43 in ALS: cognition as a new biomarker for brain pathology. Journal of Neurology, Neurosurgery and Psychiatry 2020 Feb;91(2):125].
Gregory JM, Livesey MR, McDade K, Selvaraj BT, Barton SK, Chandran S, Smith C. Dysregulation of AMPA receptor subunit expression in sporadic ALS post-mortem brain. Journal of Pathology 2020; 250(1):67-78.
Gregory JM, Fagegaltier D, Phatnani H, Harms MB. Genetics of amyotrophic lateral sclerosis. Current Genetic Medicine Reports 2020; 8(4):121-131.
Gregory JM, Elliott E, McDade K, Bak T, Pal S, Chandran S, Abrahams S, Smith C. Neuronal clusterin expression is associated with cognitive protection in amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology 2020; 46(3):255-263.
Elliott E, Newton J, Rewaj P, Gregory JM, Tomarelli L, Colville S, Chandran S, Pal S. An epidemiological profile of dysarthria incidence and assistive technology use in the living population of people with MND in Scotland. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2020; 21(1-2):116-122.
Elliott E, Bailey O, Waldron FM, Hardingham GE, Chandran S, Gregory JM. Therapeutic targeting of proteostasis in amyotrophic lateral sclerosis – a systematic review and meta-analysis of preclinical research. Frontiers in Neuroscience 2020; 14:511.
2019
Mehta AR, Walters R, Waldron FM, Pal S, Selvaraj BT, Macleod MR, Hardingham GE, Chandran S, Gregory JM. Targeting mitochondrial dysfunction in amyotrophic lateral sclerosis: a systematic review and meta-analysis. Brain Communications 2019; 1(1):fcz009.
Barton SK, Gregory JM, Chandran S, Turner BJ. Could an impairment in local translation of mRNAs in glia be contributing to pathogenesis in ALS? Frontiers in Molecular Neuroscience 2019; 12:124.
2018
Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, and 17 others. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca(2+)-permeable AMPA receptor-mediated excitotoxicity. Nature Communications 2018; 9(1):347.
Majumder V*, Gregory JM*, Barria MA, Green A, Pal S. TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis. BMC Neurology 2018; 18(1):90. *equal contributions
2017
Gregory JM, Whiten DR, Brown RA, Barros TP, Kumita JR, Yerbury JJ, Satapathy S, McDade K, Smith C, Luheshi LM, Dobson CM, Wilson MR. Clusterin protects neurons against intracellular proteotoxicity. Acta Neuropathologica Communications 2017; 5(1):81
Gregory JM, Waldron FM, Soane T, Fulton L, Leighton D, Chataway J, Pal S, Chandran S, Macleod MR. Protocol for a systematic review and meta-analysis of experimental models of amyotrophic lateral sclerosis. Evidence-based Preclinical Medicine 2017; DOI: https://doi.org/10.1002/ebm2.23
2016
Crippa V, Cicardi ME, Ramesh N, Seguin SJ, Ganassi M, Bigi I, Diacci C, Zelotti E, Baratashvili M, Gregory JM, Dobson CM, Cereda C, Pandey UB, Poletti A, Carra S. The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity. Human Molecular Genetics 2016; 25(18):3908-3924.
2012
Gregory JM, Barros TP, Meehan S, Dobson CM, Luheshi LM. The aggregation and neurotoxicity of TDP-43 and its ALS-associated 25 kDa fragment are differentially affected by molecular chaperones in Drosophila. PLoS One 2012; 7(2):e31899.
Dissertations and Theses
2017
Gregory JM. Interrogating the spatial transcriptome of motor neurone disease. Thesis submitted by Jenna M Gregory in August 2017 for the degree of MMedSci in Molecular Pathology, at the University of Edinburgh. DOI: 10.6084/m9.figshare.29149670.
2016
Gregory JM. A systematic approach to identify oral neuroprotective interventions for motor neuron disease. Thesis submitted by Jenna M Gregory in August 2016 for the degree of MSc in Clinical Trials, at the University of Edinburgh. DOI: 10.6084/m9.figshare.29149673.