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

Export as [feed] Atom [feed] RSS
Number of items: 212.

Article

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

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

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

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. ISSN 0148-639X

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

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

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

Alix, J.J.P. orcid.org/0000-0001-8391-9749, Plesia, M., Schooling, C.N. et al. (9 more authors) (2022) 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. ISSN 0377-0486

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

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

Balendra, R., Jones, A.R., Al Khleifat, A. et al. (7 more authors) (2022) Comparison of King’s clinical staging in multinational amyotrophic lateral sclerosis cohorts. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421

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

Franklin, J.P., Azzouz, M. and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2020) SOD1-targeting therapies for neurodegenerative diseases : a review of current findings and future potential. Expert Opinion on Orphan Drugs, 8 (10). pp. 379-392. ISSN 2167-8707

Verber, N. and Shaw, P.J. orcid.org/0000-0002-8925-2567 (2020) Biomarkers in amyotrophic lateral sclerosis : a review of new developments. Current Opinion in Neurology, 33 (5). pp. 662-668. ISSN 1350-7540

Sproson, L., Lanfranchi, V. orcid.org/0000-0003-3148-2535, Collins, A. et al. (16 more authors) (2020) Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (1-2). pp. 38-45. ISSN 2167-8421

Chambers, A., Bury, J.J., Minett, T. et al. (9 more authors) (2020) Advanced glycation end product formation in human cerebral cortex increases with Alzheimer-type neuropathologic changes but is not independently associated with dementia in a population-derived aging brain cohort. Journal of Neuropathology & Experimental Neurology, 79 (9). pp. 950-958. ISSN 0022-3069

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

Miller, T., Cudkowicz, M., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (28 more authors) (2020) Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 383 (2). pp. 109-119. ISSN 0028-4793

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

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

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

Tazelaar, G.H.P., Boeynaems, S., De Decker, M. et al. (35 more authors) (2020) ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization. Brain Communications, 2 (2). fcaa064. ISSN 2632-1297

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

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

Bell, S.M., De Marco, M., Barnes, K. et al. (5 more authors) (2020) Deficits in mitochondrial spare respiratory capacity contribute to the neuropsychological changes of alzheimer’s disease. Journal of Personalized Medicine, 10 (2). 32. ISSN 2075-4426

Opie-Martin, S., Jones, A., Iacoangeli, A. et al. (9 more authors) (2020) UK case control study of smoking and risk of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (3-4). pp. 222-227. ISSN 2167-8421

Alix, J.J.P. orcid.org/0000-0001-8391-9749, McDonough, H.E., Sonbas, B. et al. (6 more authors) (2020) Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis. Clinical Neurophysiology, 131 (4). pp. 799-808. ISSN 1388-2457

Jenkins, T.M., Alix, J.J.P. orcid.org/0000-0001-8391-9749, Fingret, J. et al. (6 more authors) (2020) Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology, 267 (1). pp. 244-256. ISSN 0340-5354

Reichenstein, I., Eitan, C., Diaz-Garcia, S. et al. (42 more authors) (2019) Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science Translational Medicine, 11 (523). eaav5264. ISSN 1946-6234

Iacoangeli, A., Al Khleifat, A., Jones, A.R. et al. (10 more authors) (2019) C9orf72 intermediate expansions of 24–30 repeats are associated with ALS. Acta Neuropathologica Communications, 7 (1). 115. ISSN 2051-5960

Farhan, S.M.K., Howrigan, D.P., Abbott, L.E. et al. (32 more authors) (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22 (12). pp. 1966-1974. ISSN 1097-6256

van Eijk, R.P.A., Nikolakopoulos, S., Roes, K.C.B. et al. (7 more authors) (2019) Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials. Journal of Neurology, Neurosurgery & Psychiatry, 90 (12). pp. 1331-1337. ISSN 0022-3050

Allen, S.P., Hall, B., Woof, R. et al. (16 more authors) (2019) C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain. 302. pp. 1-20. ISSN 0006-8950

Hobson, E. orcid.org/0000-0002-8497-2338, Baird, W. orcid.org/0000-0002-4253-2721, Bradburn, M. orcid.org/0000-0002-3783-9761 et al. (6 more authors) (2019) Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre. BMJ Open, 9. e028526.

Hobson, E.V. orcid.org/0000-0002-8497-2338, Baird, W.O. orcid.org/0000-0002-4253-2721, Bradburn, M. orcid.org/0000-0002-3783-9761 et al. (6 more authors) (2019) Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care : a UK-based pilot and feasibility study. BMJ Open, 9 (10). e028525.

Smith, E.F., Shaw, P.J. and De Vos, K.J. orcid.org/0000-0003-2161-6309 (2019) The Role of Mitochondria in Amyotrophic Lateral Sclerosis. Neuroscience Letters, 710. 132933. ISSN 0304-3940

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

Gao, S., Guo, X., Zhao, S. et al. (21 more authors) (2019) Differentiation of human adipose-derived stem cells into neuron/motoneuron-like cells for cell replacement therapy of spinal cord injury. Cell Death & Disease, 10 (8). 597.

Verber, N.S., Shepheard, S.R., Sassani, M. orcid.org/0000-0002-0384-7296 et al. (6 more authors) (2019) Biomarkers in motor neuron disease: A state of the art review. Frontiers in Neurology, 10. 291. ISSN 1664-2295

Al Khleifat, A. orcid.org/0000-0002-7406-9831, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Shatunov, A. et al. (11 more authors) (2019) Telomere length is greater in ALS than in controls: a whole genome sequencing study. Amyotroph Lateral Scler Frontotemporal Degener, 20 (3-4). pp. 229-234. ISSN 2167-8421

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

Van Der Spek, R.A., Van Rheenen, W., Pulit, S.L. et al. (34 more authors) (2018) Reconsidering the causality of TIA1 mutations in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 19 (1-2). pp. 1-3. ISSN 2167-8421

Hewamadduma, C.A., Hoggard, N. orcid.org/0000-0002-6447-7639, O'Malley, R. et al. (13 more authors) (2018) Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurology Genetics, 4 (6). e279.

Shaw, M.P., Higginbottom, A. orcid.org/0000-0002-3246-6695, McGown, A. et al. (5 more authors) (2018) Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Acta Neuropathologica Communications, 6 (1). 125. ISSN 2051-5960

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.

Project, M.A.S.C., van Rheenen, W., Pulit, S.L. et al. (36 more authors) (2018) Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. European Journal of Human Genetics, 26 (10). pp. 1537-1546. ISSN 1018-4813

Mehta, P.R. orcid.org/0000-0002-0255-407X, Jones, A.R., Opie-Martin, S. et al. (11 more authors) (2018) 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. ISSN 0022-3050

Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A. et al. (28 more authors) (2018) Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of Aging. ISSN 0197-4580

Iannitti, T., Scarrott, J., Likhite, S. et al. (12 more authors) (2018) Translating SOD1 gene silencing towards the clinic: A highly efficacious, off-target free and biomarker-supported strategy for familial ALS. Molecular Therapy : Nucleic Acids, 12. pp. 75-88. ISSN 2162-2531

Bell, S.M., Barnes, K., Clemmens, H. et al. (8 more authors) (2018) Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with either Sporadic or Familial Alzheimer's Disease. Journal of Molecular Biology. ISSN 0022-2836

Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J. et al. (32 more authors) (2018) CHCHD10 variants in amyotrophic lateral sclerosis: where Is the evidence? Annals of Neurology , 84 (1). pp. 110-116. ISSN 0364-5134

Pancani, S., Tindale, W., Shaw, P.J. et al. (2 more authors) (2018) Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis. Clinical Biomechanics, 57. pp. 114-120.

Vogt, M.A., Ehsaei, Z., Knuckles, P. et al. (10 more authors) (2018) TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons. Scientific Reports, 8 (1). 8097. ISSN 2045-2322

Westeneng, H.-J., Debray, T.P.A., Visser, A.E. et al. (44 more authors) (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurology, 17 (5). pp. 423-433. ISSN 1474-4422

Hobson, E.V. orcid.org/0000-0002-8497-2338, Baird, W.O. orcid.org/0000-0002-4253-2721, Partridge, R. et al. (7 more authors) (2018) The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19 (5-6). pp. 351-361. ISSN 2167-8421

Castelli, L.M., Lin, Y.H., Ferraiuolo, L. et al. (6 more authors) (2018) SRSF1-dependent nuclear export of C9ORF72 repeat-transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection. Therapeutic Targets for Neurological Diseases, 4. e1619. ISSN 2376-0478

Ciervo, Y., Ning, K orcid.org/0000-0002-0771-1134, Jun, X. et al. (2 more authors) (2017) Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 12. 85. ISSN 1750-1326

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

van Eijk, R.P.A., Jones, A.R., Sproviero, W. et al. (19 more authors) (2017) Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. Neurology, 89 (18). pp. 1915-1922. ISSN 0028-3878

Hardiman, O., Al-Chalabi, A., Chio, A. et al. (6 more authors) (2017) Amyotrophic lateral sclerosis. Nature Reviews Disease Primers, 3. 17071.

Walker, C., Herranz-Martin, S., Karyka, E. et al. (19 more authors) (2017) C9orf72 Expansion Disrupts ATM-mediated Chromosomal Break Repair. Nature Neuroscience, 20 (9). pp. 1225-1235. ISSN 1097-6256

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).

Morgan, S. orcid.org/0000-0002-1734-4710, Shatunov, A., Sproviero, W. et al. (14 more authors) (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain, 140 (6). pp. 1611-1618. ISSN 0006-8950

Herranz-Martin, S., Chandran, J. orcid.org/0000-0002-3486-8583, Lewis, K. et al. (12 more authors) (2017) Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits. Disease Models and Mechanisms. ISSN 1754-8403

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

McLaughlin, R.L., Schijven, D., van Rheenen, W. et al. (433 more authors) (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. 14774.

Hobson, E.V. orcid.org/0000-0002-8497-2338, Fazal, S., Shaw, P.J. orcid.org/0000-0002-8925-2567 et al. (1 more author) (2017) “Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18 (5-6). pp. 378-387. ISSN 2167-8421

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

Pancani, S., Tindale, W., Shaw, P.J. et al. (2 more authors) (2017) An objective functional characterisation of head movement impairment in individuals with neck muscle weakness due to Amyotrophic lateral sclerosis. PLoS One, 12 (1). e0169019. ISSN 1932-6203

Nardo, G., Trolese, M.C., de Vito, G. et al. (8 more authors) (2016) Immune response in peripheral axons delays disease progression in SOD1(G93A) mice. Journal of Neuroinflammation, 13 (1). p. 261. ISSN 1742-2094

Glajch, K.E., Ferraiuolo, L. orcid.org/0000-0001-9118-5714, Mueller, K.A. et al. (5 more authors) (2016) MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis. PLoS One, 11 (10). e0164103. ISSN 1932-6203

Rooney, J., Fogh, I., Westeneng, H.J. et al. (17 more authors) (2016) C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery and Psychiatry. ISSN 0022-3050

Hobson, E.V. orcid.org/0000-0002-8497-2338, Harwood, C.A., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (1 more author) (2016) Clinical aspects of motor neurone disease. Medicine, 44 (9). pp. 552-556. ISSN 1357-3039

Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M. et al. (92 more authors) (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

McGeachan, A.J., Hobson, E.V., Al-Chalabi, A. et al. (19 more authors) (2016) A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. ISSN 2167-8421

Webster, C.P., Smith, E.F., Bauer, C.S. et al. (12 more authors) (2016) The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO Journal, 35 (15). pp. 1656-1676.

Fogh, I., Lin, K., Tiloca, C. et al. (46 more authors) (2016) Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. JAMA Neurology, 73 (7). pp. 812-820. ISSN 2168-6149

McDermott, C.J., Bradburn, M.J., Maguire, C. et al. (35 more authors) (2016) DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial. Health Technology Assessment, 20 (45). pp. 1-186. ISSN 1366-5278

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

Harwood, C.A., Westgate, K., Gunstone, S. et al. (4 more authors) (2016) Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis? Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17 (5-6). pp. 377-384. ISSN 2167-8421

Baxter, S., Reed, H., Clarke, Z. et al. (11 more authors) (2016) Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration . ISSN 2167-8421

Pancani, S., Rowson, J., Tindale, W. et al. (9 more authors) (2016) Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness. Clinical Biomechanics, 32. pp. 201-206. ISSN 1879-1271

Jenkins, T.M., Alix, J.J. orcid.org/0000-0001-8391-9749, Kandler, R.H. et al. (2 more authors) (2016) The role of cranial and thoracic EMG within diagnostic criteria for ALS. Muscle and Nerve. ISSN 0148-639X

Sivadasan, R., Hornburg, D., Drepper, C. et al. (11 more authors) (2016) C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. Nature Neuroscience, 19. pp. 1610-1618. ISSN 1097-6256

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

Ferraiuolo, L. orcid.org/0000-0001-9118-5714, Meyer, K., Sherwood, T. et al. (12 more authors) (2016) Oligodendrocytes contribute to motor neuron death in ALS via SOD1 dependent mechanism. Proceedings of the National Academy of Sciences, 113 (42). E6496-E6505. ISSN 1091-6490

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

van der Kleij, L.A., Jones, A.R., Steen, I.N. et al. (6 more authors) (2015) Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 16 (7-8). pp. 442-447. ISSN 2167-8421

Fluteau, A., Ince, P.G., Minett, T. et al. (10 more authors) (2015) The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain. Neuroscience Letters, 609. pp. 11-17. ISSN 0304-3940

Rafiq, M.K. and Shaw, P.J. (2015) Cough assistance to clear lungs of ALS patients with severe bulbar dysfunction: Not a good idea! Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (7-8). pp. 534-535. 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

McDermott, C.J., Shaw, P.J., Cooper, C.L. et al. (25 more authors) (2015) Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. Lancet Neurology, 14 (9). pp. 883-892. ISSN 1474-4422

Nicholls, Z., Hobson, E., Martindale, J.A. et al. (1 more author) (2015) Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. Practical Neurology, 15 (4). pp. 280-283. ISSN 1474-7758

Smith, L., Cupid, B.C., Dickie, B.G. et al. (4 more authors) (2015) Establishing the UK DNA Bank for motor neuron disease (MND). BMC Genetics, 16. 84. ISSN 1471-2156

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

Allen, S.P., Duffy, L.M., Shaw, P.J. et al. (1 more author) (2015) Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 36 (10). pp. 2893-2903. ISSN 0197-4580

Rafiq, M.K., Lee, E., Bradburn, M. et al. (2 more authors) (2015) Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (7-8). pp. 478-484. ISSN 2167-8421

Simpson, J.E., Ince, P.G., Minett, T. et al. (9 more authors) (2015) Neuronal DNA damage response-associated dysregulation of signalling pathways and cholesterol metabolism at the earliest stages of Alzheimer-type pathology. Neuropathology and Applied Neurobiology. ISSN 0305-1846

Rafiq, M.K., Bradburn, M., Proctor, A.R. et al. (4 more authors) (2015) A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16 (7-8). pp. 448-455. 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

McDermott, C.J., Shaw, P.J., Stavroulakis, T. et al. (24 more authors) (2015) Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. Lancet Neurology, 14 (7). pp. 702-709. ISSN 1474-4422

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

Simpson, J.E., Ince, P.G., Matthews, F.E. et al. (7 more authors) (2015) A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort. Neuropathology and Applied Neurobiology, 41 (4). pp. 483-496. 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

Scarrott, J.M., Herranz-Martín, S., Alrafiah, A.R. et al. (2 more authors) (2015) Current developments in gene therapy for amyotrophic lateral sclerosis. Expert Opinion on Biological Therapy.

Lill, C.M., Rengmark, A., Pihlstrøm, L. et al. (49 more authors) (2015) The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimer's and Dementia, 11 (12). pp. 1407-1416. ISSN 1552-5260

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

Mathur, R., Ince, P.G., Minett, T. et al. (7 more authors) (2015) A Reduced Astrocyte Response to beta-Amyloid Plaques in the Ageing Brain Associates with Cognitive Impairment. PLOS ONE, 10 (2). e0118463. ISSN 1932-6203

Mathur, R., Ince, P.G., Minett, T. et al. (6 more authors) (2015) A Reduced Astrocyte Response to β-Amyloid Plaques in the Ageing Brain Associates with Cognitive Impairment. PLoS One, 10 (2). e0118463. ISSN 1932-6203

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

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.

Marino, M., Papa, S., Crippa, V. et al. (11 more authors) (2015) Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis. Neurobiology of Aging, 36 (1). 492 - 504. ISSN 0197-4580

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

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

Smith, B.N., Ticozzi, N., Fallini, C. et al. (63 more authors) (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84 (2). pp. 324-331. ISSN 0896-6273

Bennett, E.J., Mead, R.J., Azzouz, M. et al. (2 more authors) (2014) Early Detection of Motor Dysfunction in the SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis (ALS) Using Home Cage Running Wheels. PLOS ONE, 9 (9). e107918. ISSN 1932-6203

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

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).

Savage, A.L., Wilm, T.P., Khursheed, K. et al. (10 more authors) (2014) An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS. PLOS ONE, 9 (3). e90833. ISSN 1932-6203

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

Yang, D-J., Wang, X-L., Ismail, A. et al. (10 more authors) (2014) PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons. Cell Death and Disease, 5. e1096. ISSN 2041-4889

Balendra, R., Jones, A., Jivraj, N. et al. (6 more authors) (2014) Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials. Journal of Neurology, Neurosurgery and Psychiatry, 86 (1). pp. 45-49. ISSN 0022-3050

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

Christou, Y.A., Ohyama, K., Placzek, M. et al. (2 more authors) (2013) Wild-type but not mutant SOD1 transgenic astrocytes promote the efficient generation of motor neuron progenitors from mouse embryonic stem cells. BMC Neuroscience, 14 (126). ISSN 1471-2202

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

Richardson, K., Allen, S.P., Mortiboys, H.J. et al. (5 more authors) (2013) The Effect of SOD1 Mutation on Cellular Bioenergetic Profile and Viability in Response to Oxidative Stress and Influence of Mutation-Type. PLoS ONE, 8 (6). e68256. ISSN 1932-6203

Hewamadduma, C.A.A., Grierson, A.J., Ma, T.P. et al. (5 more authors) (2013) Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish. Human Molecular Genetics, 22 (12). 2376 - 2386. ISSN 0964-6906

Jenkins, T.M., Burness, C., Connolly, D.J. et al. (6 more authors) (2013) A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , 14 (5-6). 414 - 423. ISSN 2167-8421

Turner, M.R., Bowser, R., Bruijn, L. et al. (11 more authors) (2013) Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14 (Sup1). pp. 19-32. ISSN 2167-8421

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

Turner, M.R., Hardiman, O., Benatar, M. et al. (17 more authors) (2013) Controversies and priorities in amyotrophic lateral sclerosis. The Lancet Neurology, 12 (3). pp. 310-322. ISSN 1474-4422

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

McGown, A., McDearmid, J.R., Panagiotaki, N. et al. (7 more authors) (2012) Early interneuron dysfunction in ALS: Insights from a mutant sod1 zebrafish model. Annals of Neurology, 73 (2). 246 - 258. ISSN 0364-5134

McDermott, C.J., Maguire, C., Cooper, C.L. et al. (18 more authors) (2012) Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial. BMC Neurology, 12. 74. ISSN 1471-2377

Gibbons, C.J., Mills, R.J., Thornton, E.W. et al. (6 more authors) (2011) Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND). Health and Quality of Life Outcomes, 9. 101. ISSN 1477-7525

Gibbons, C.J., Mills, R.J., Thornton, E.W. et al. (6 more authors) (2011) Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease. Health and Quality of Life Outcomes, 9. 82. ISSN 1477-7525

Sargsyan, S.A., Blackburn, D.J., Barber, S.C. et al. (4 more authors) (2011) A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function. BMC Neuroscience, 12. 91. ISSN 1471-2202

Al-Chalabi, A., Shaw, P.J., Young, C.A. et al. (7 more authors) (2011) Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31]. BMC Neurology, 11. 111. ISSN 1471-2377

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

Besson, H., Harwood, C.A., Ekelund, U. et al. (4 more authors) (2010) Validation of the historical adulthood physical activity questionnaire (HAPAQ) against objective measurements of physical activity. International Journal of Behavioral Nutrition and Physical Activity, 7. 54. ISSN 1479-5868

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

Brockington, A., Heath, P.R., Holden, H. et al. (7 more authors) (2010) Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGF(delta/delta) mouse model of amyotrophic lateral sclerosis. BMC Genomics, 11. Art no.203. ISSN 1471-2164

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

Van Deerlin, V.M., Sleiman, P.M.A., Martinez-Lage, M. et al. (97 more authors) (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions. Nature Genetics, 42 (3). pp. 234-239. ISSN 1061-4036,

Brockington, A., Wokke, B., Nixon, H. et al. (2 more authors) (2007) Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis. BMC Medical Genetics, 8 (Art. N). ISSN 1471-2350

Book Section

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

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)

This list was generated on Sun Mar 24 18:25:44 2024 GMT.