Edinburgh Research Explorer
  1. 2020
  2. Cerebrospinal fluid cytotoxicity in amyotrophic lateral sclerosis: a systematic review of in vitro studies

    Kwong, K. C. N. K., Gregory, J. M., Pal, S., Chandran, S. & Mehta, A. R., 6 Aug 2020, In : Brain Communications.

    Research output: Contribution to journalArticle

  3. Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

    Motyl, A. A. L., Faller, K., Groen, E. J. N., Kline, R., Eaton, S., Ledahawsky, L., Chaytow, H., Lamont, D. J., Wishart, T., Huang, Y. & Gillingwater, T., 9 Jul 2020, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  4. Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models

    Marques, R. F., Engler, J. B., Kuchler, K., Jones, R., Lingner, T., Salinas, G., Gillingwater, T., Friese, M. A. & Duncan, K. E., 7 Jul 2020, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  5. Neural circuit reorganisation after spinal cord injury in Zebrafish

    El-Daher, F. & Becker, C. G., 27 Jun 2020, In : Current Opinions in Genetics and Developments. 64

    Research output: Contribution to journalArticle

  6. Excellent reliability of the ALSFRS-R administered via videoconferencing: A study of people with motor neuron disease in Scotland

    Newton, J., Jayaprakash, K., Glasmacher, S. A., Mceleney, A., Bethell, A., Fraser, E., Hatrick, J., Haagenrud, H., Stott, G., Dakin, R., Chandran, S. & Pal, S., 21 Jun 2020, In : Journal of the Neurological Sciences. 416, p. 116991

    Research output: Contribution to journalArticle

  7. Aging-sensitive networks within the human structural connectome are implicated in late-life cognitive declines.

    Madole, J. W., Ritchie, S. J., Cox, S., Buchanan, C., Valdes Hernandez, M., Muñoz Maniega, S., Wardlaw, J., Harris, M., Bastin, M., Deary, I. & Tucker-Drob, E. M., 6 Jun 2020, (Accepted/In press) In : Biological Psychiatry.

    Research output: Contribution to journalArticle

  8. Therapeutic Targeting of Proteostasis in Amyotrophic Lateral Sclerosis—a Systematic Review and Meta-Analysis of Preclinical Research

    Elliott, E., Bailey, O., Waldron, F. M., Hardingham, G. E., Chandran, S. & Gregory, J. M., 25 May 2020, In : Frontiers in Neuroscience. 14

    Research output: Contribution to journalArticle

  9. Riluzole prescribing, uptake and treatment discontinuation in people with amyotrophic lateral sclerosis in Scotland

    Jayaprakash, K., Glasmacher, S. A., Pang, B., Beswick, E., Mehta, A. R., Dakin, R., Newton, J., Chandran, S. & Pal, S., 23 May 2020, In : Journal of Neurology.

    Research output: Contribution to journalArticle

  10. Multidimensional apathy in behavioural variant frontotemporal dementia, primary progressive aphasia and Alzheimer’s disease

    Radakovic, R., Colville, S., Starr, J., Pal, S. & Abrahams, S., 15 May 2020, In : Journal of Geriatric Psychiatry and Neurology.

    Research output: Contribution to journalArticle

  11. Evolution of white matter damage in amyotrophic lateral sclerosis

    Gabel, M. C., Broad, R. J., Young, A. L., Abrahams, S., Bastin, M., Menke, R. A. L., Al Chalabi, A., Goldstein, L. H., Tsermentseli, S., Alexander, D. C., Turner, M. R., Leigh, N. & Cercignani, M., 4 May 2020, In : Annals of Clinical and Translational Neurology.

    Research output: Contribution to journalArticle

  12. National audit of cognitive assessment in people with pwMND A national audit of cognitive assessment in people with motor neurone disease (pwMND) in Scotland

    Stavrou, M., Newton, J., Stott, G., Colville, S., Chandran, S., Abrahams, S., Pal, S. & Davenport, R., 20 Apr 2020, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-4

    Research output: Contribution to journalArticle

  13. aNMJ-morph – A simple macro for rapid analysis of neuromuscular junction (NMJ) morphology

    Minty, G., Hoppen, A., Boehm, I., Alhindi, A., Gibb, L., Potter, E., Wagner, B., Miller, J., Skipworth, R., Gillingwater, T. & Jones, R., 15 Apr 2020, In : Royal Society Open Science.

    Research output: Contribution to journalArticle

  14. Dynamic cell interactions allow spinal cord regeneration in zebrafish

    Becker, T. & Becker, C. G., 1 Apr 2020, In : Current opinion in physiology.

    Research output: Contribution to journalArticle

  15. Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

    McHutchison, C. A., Leighton, D. J., McIntosh, A., Cleary, E., Warner, J., Porteous, M., Chandran, S., Pal, S. & Abrahams, S., Mar 2020, In : Journal of Neurology, Neurosurgery & Psychiatry. 91, 3, p. 245-253

    Research output: Contribution to journalArticle

  16. Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy

    Khan, A., Paro, S., McGurk, L., Sambrani, N., Hogg, M. C., Brindle, J., Pennetta, G., Keegan, L. P. & O'Connell, M. A., 14 Feb 2020, In : BMC Biology. 18, 1, p. 15

    Research output: Contribution to journalArticle

  17. Reliability and validity of the brief Dimensional Apathy Scale (b-DAS)

    Radakovic, R., Gray, D., Dudley, K., Mioshi, E., Dick, D., Melchiorre, G., Gordon, H., Newton, J., Colville, S., Pal, S. & Abrahams, S., 11 Feb 2020, In : Archives of Clinical Neuropsychology. 6 p.

    Research output: Contribution to journalArticle

  18. Executive, language and fluency dysfunction are markers of localised TDP-43 cerebral pathology in non-demented ALS

    Gregory, J., McDade, K., Bak, T., Pal, S., Chandran, S., Smith, C. & Abrahams, S., Feb 2020, In : Journal of Neurology, Neurosurgery & Psychiatry. 91, 2, p. 149-157

    Research output: Contribution to journalArticle

  19. Spatial transcriptomics identifies spatially dysregulated expression of GRM3 and USP47 in amyotrophic lateral sclerosis

    Gregory, J. M., McDade, K., Livesey, M. R., Croy, I., Marion de Proce, S., Aitman, T., Chandran, S. & Smith, C., 10 Jan 2020, In : Neuropathology and Applied Neurobiology.

    Research output: Contribution to journalArticle

  20. Lentiviral delivery of human erythropoietin attenuates hippocampal atrophy and improves cognition in the R6/2 mouse model of Huntington's disease

    Rolfes, S., Munro, D., Lyras, E-M., Matute, E., Ouk, K., Harms, C., Böttcher, C. & Priller, J., 2020, In : Neurobiology of disease.

    Research output: Contribution to journalArticle

  21. 2019
  22. PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration-causing proteins

    Corbett, G. T., Wang, Z., Hong, W., Colom Cadena, M., Rose, J., Liao, M., Asfaw, A., Hall, T. C., Ding, L., DeSousa, A., Frosch, M. P., Collinge, J., Harris, D. A., Perkington, M. S., Spires-Jones, T., Young-Pearse, T. L., Billington, A. & Walsh, D. M., 18 Dec 2019, In : Acta Neuropathologica.

    Research output: Contribution to journalArticle

  23. Etymology and the neuron(e)

    Mehta, A. R., Mehta, P. R., Anderson, S. P., Mackinnon, B. L. H. & Compston, A., 17 Dec 2019, In : Brain.

    Research output: Contribution to journalArticle

  24. Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

    Zhao, C., Devlin, A., Chouhan, A. K., Selvaraj, B. T., Stavrou, M., Burr, K., Brivio, V., He, X., Mehta, A. R., Story, D., Shaw, C. E., Dando, O., Hardingham, G. E., Miles, G. B. & Chandran, S., 16 Dec 2019, In : Glia.

    Research output: Contribution to journalArticle

  25. Raptor-Mediated Proteasomal Degradation of Deamidated 4E-BP2 Regulates Postnatal Neuronal Translation and NF-κB Activity

    Kouloulia, S., Hallin, E. I., Simbriger, K., Amorim, I. S., Lach, G., Amvrosiadis, T., Chalkiadaki, K., Kampaite, A., Truong, V. T., Hooshmandi, M., Jafarnejad, S. M., Skehel, P., Kursula, P., Khoutorsky, A. & Gkogkas, C. G., 10 Dec 2019, In : Cell Reports. 29, 11, p. 3620-3635.e7

    Research output: Contribution to journalArticle

  26. Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis

    Glasmacher, S. A., Wong, C., Pearson, I. E. & Pal, S., 18 Nov 2019, In : JAMA Neurology.

    Research output: Contribution to journalArticle

  27. Integrated Flexible Hybrid Silicone-Textile Dual-Resonant Sensors and Switching Circuit for Wearable Neurodegeneration Monitoring Systems

    Saied, I., Chandran, S. & Arslan, T., 4 Nov 2019, In : IEEE Transactions on Biomedical Circuits and Systems.

    Research output: Contribution to journalArticle

  28. Interaction of axonal Chondrolectin with Collagen XIXa1 is necessary for precise neuromuscular junction formation

    Oprisoreanu, A., Smith, H., Ayra, S., Webster, R., Zhong, Z., Wehner, D., Cardozo, M. J., Becker, T., Talbot, K. & Becker, C. G., 29 Oct 2019, In : Cell Reports. 29, 5

    Research output: Contribution to journalArticle

  29. Neuropsychological and functional assessment across different cultures and continents

    Bak, T., 15 Oct 2019, In : Journal of the Neurological Sciences. 405, p. 67

    Research output: Contribution to journalShort survey

  30. The clinical impact of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) and neuropsychological intervention in routine ALS care

    Hodgins, F., Mulhern, S. & Abrahams, S., 15 Oct 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

    Research output: Contribution to journalArticle

  31. A single systemic inflammatory insult causes acute motor deficits and accelerates disease progression in a mouse model of human tauopathy

    Torvell, M., Hampton, D. W., Connick, P., Maclullich, A. M. J., Cunningham, C. & Chandran, S., 9 Oct 2019, In : Alzheimer's and Dementia: Translational Research and Clinical Interventions. 5, p. 579-591

    Research output: Contribution to journalArticle

  32. An epidemiological profile of dysarthria incidence and assistive technology use in the living population of people with MND in Scotland

    Elliott, E., Newton, J., Rewaj, P., Gregory, J. M., Tomarelli, L., Colville, S., Chandran, S. & Pal, S., 9 Oct 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-7

    Research output: Contribution to journalArticle

  33. Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

    Gregory, J. M., Livesey, M. R., Mcdade, K., Selvaraj, B. T., Barton, S. K., Chandran, S. & Smith, C., 3 Oct 2019, In : The Journal of Pathology.

    Research output: Contribution to journalArticle

  34. Altered mitochondrial bioenergetics are responsible for the delay in Wallerian degeneration observed in neonatal mice.

    Kline, R., Dissanayake, K., Llavero hurtado, M. D. C., Martínez, N. W., Ahl, A., Mole, A. J., Lamont, D. J., Court, F. A., Ribchester, R., Wishart, T. & Murray, L., Oct 2019, In : Neurobiology of disease. 130, 104496.

    Research output: Contribution to journalArticle

  35. Extending a Hodgkin-Huxley Model for Larval Drosophila Muscle Excitability via Particle Swarm Fitting

    Piho, P., Margetiny, F., Bartocci, E., Ribchester, R. & Hillston, J., 17 Sep 2019, Computational Methods in Systems Biology: CMSB 2019. Bortolussi, L. & Sanguinetti, G. (eds.). Springer, Cham, p. 120-139 20 p. (Lecture Notes in Computer Science; vol. 11773).

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

  36. NMDA receptor C-terminal signaling in development, plasticity, and disease

    Hardingham, G., 30 Aug 2019, In : F1000Research. 8

    Research output: Contribution to journalReview article

  37. The Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen (ECAS): Sensitivity in differentiating between ALS and Alzheimer's disease in a Greek population

    Kourtesis, P., Christidi, F., Margioti, E., Demenega, C., Michail, R., Evdokimidis, I. & Abrahams, S., 30 Aug 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

    Research output: Contribution to journalArticle

  38. Neuronal clusterin expression is associated with cognitive protection in amyotrophic lateral sclerosis

    Gregory, J. M., Elliot, E., Mcdade, K., Bak, T., Pal, S., Chandran, S., Abrahams, S. & Smith, C., 28 Aug 2019, In : Neuropathology and Applied Neurobiology.

    Research output: Contribution to journalArticle

  39. Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

    Deguise, M-O., Baranello, G., Mastella, C., Beauvais, A., Michaud, J., Leone, A., De Amicis, R., Battezzati, A., Dunham, C., Selby, K., Warman Chardon, J., McMillan, H. J., Huang, Y-T., Courtney, N. L., Mole, A. J., Kubinski, S., Claus, P., Murray, L. M., Bowerman, M., Gillingwater, T. H. & 3 others, Bertoli, S., Parson, S. H. & Kothary, R., 11 Aug 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1519-1532 14 p.

    Research output: Contribution to journalArticle

  40. Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

    Šoltić, D., Shorrock, H. K., Allardyce, H., Wilson, E. L., Holt, I., Synowsky, S. A., Shirran, S. L., Parson, S. H., Gillingwater, T. H. & Fuller, H. R., 9 Aug 2019, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  41. Recommendations for the non-pharmacological treatment of apathy in brain disorders

    Manera, V., Abrahams, S., Agüera-Ortiz, L., Bremond, F., Renaud, D., Fairchild, K., Hanon, A., Husain, M., König, A., Lockwood, P., Maribel, P., Radakovic, R., Robert, G., Slachevsky, A., Stella, F., Tribouillard, A., Trimarchi, P. D., Verhey, F. R. J., Yesavage, J., Zeghari, R. & 1 others, Robert, P., 9 Aug 2019, In : American Journal of Geriatric Psychiatry. 28, 4, p. 410-420

    Research output: Contribution to journalArticle

  42. AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of Spinal Muscular Atrophy

    Villalon, E., Kline, R. A., Smith, C. E., Lorson, Z. C., Osman, E. Y., O'Day, S., Murray, L. & Lorson, C. L., 31 Jul 2019, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  43. Nox2 contributes to age-related oxidative damage to neurons and the cerebral vasculature

    Fan, L. M., Geng, L., Cahill-smith, S., Liu, F., Douglas, G., Mckenzie, C., Smith, C., Brooks, G., Channon, K. M. & Li, J., 22 Jul 2019, In : Journal of Clinical Investigation.

    Research output: Contribution to journalArticle

  44. Central nervous system regeneration is driven by microglia necroptosis and repopulation

    Lloyd, A. F., Davies, C. L., Holloway, R. K., Labrak, Y., Ireland, G., Carradori, D., Dillenburg, A., Borger, E., Soong, D., Richardson, J. C., Kuhlmann, T., Williams, A., Pollard, J. W., des Rieux, A., Priller, J. & Miron, V. E., 10 Jun 2019, In : Nature Neuroscience.

    Research output: Contribution to journalArticle

  45. The brief dimensional apathy scale (b-DAS): A short clinical assessment of apathy

    Radakovic, R., McGrory, S., Chandran, S., Swingler, R., Pal, S., Stephenson, L., Colville, S., Newton, J., Starr, J. & Abrahams, S., 3 Jun 2019, In : Clinical Neuropsychologist.

    Research output: Contribution to journalArticle

  46. Could an Impairment in Local Translation of mRNAs in Glia be Contributing to Pathogenesis in ALS?

    Barton, S. K., Gregory, J. M., Chandran, S. & Turner, B. J., 21 May 2019, In : Frontiers in Molecular Neuroscience. 12

    Research output: Contribution to journalArticle

  47. Hierarchical Complexity of the Adult Human Structural Connectome

    Smith, K., Bastin, M., Cox, S., Valdes Hernandez, M., Wiseman, S., Escudero, J. & Sudlow, C., May 2019, In : NeuroImage. 191, p. 205-215

    Research output: Contribution to journalArticle

  48. Regional molecular mapping of primate synapses during normal healthy ageing

    Graham, L. C., Naldrett, M. J., Kohama, S. G., Smith, C., Lamont, D. J., Mccoll, B. W., Gillingwater, T. H., Skehel, P., Urbanski, H. F. & Wishart, T. M., 23 Apr 2019, In : Cell Reports. 27, 4, p. 1018-1026.e4

    Research output: Contribution to journalArticle

  49. Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland

    Leighton, D., Newton, J., Colville, S., Bethell, A., Craig, G., Cunningham, L., Flett, M., Fraser, D., Hatrick, J., Lennox, H., Marshall, L., Mcaleer, D., Mceleney, A., Millar, K., Silver, A., Stephenson, L., Stewart, S., Storey, D., Stott, G., Thornton, C. & 16 others, Webber, C., Gordon, H., Melchiorre, G., Sherlock, L., Beswick, E., Buchanan, D., Abrahams, S., Bateman, A., Preston, J., Duncan, C., Davenport, R., Gorrie, G., Morrison, I., Swingler, R., Chandran, S. & Pal, S., 20 Mar 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-9

    Research output: Contribution to journalArticle

  50. Improved survival and 30-day mortality after gastrostomy in Scottish motor neurone disease patients: evidence from a national retrospective cohort study using STROBE criteria

    Gorrie, G. H., Chandran, S., Colville, S., Newton, J., Leighton, D., Mcdonald, M., Pal, S., Forbes, R., Hair, M. & Swingler, R., 5 Mar 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-7

    Research output: Contribution to journalArticle

  51. Molecular mechanisms underlying sensory-motor circuit dysfunction in SMA

    Shorrock, H. K., Gillingwater, T. & Groen, E., 4 Mar 2019, In : Frontiers in Molecular Biosciences. 12, 59.

    Research output: Contribution to journalReview article

  52. In Vitro Generation and Electrophysiological Characterization of OPCs and Oligodendrocytes from Human Pluripotent Stem Cells

    Magnani, D., Chandran, S., Wyllie, D. J. A. & Livesey, M. R., 1 Mar 2019, Oligodendrocytes. Lyons, D. & Kegel, L. (eds.). Humana Press, p. 65-77 Chapter 4. (Methods in Molecular Biology; vol. 1936).

    Research output: Chapter in Book/Report/Conference proceedingChapter

  53. Glial contribution to excitatory and inhibitory synapse loss in neurodegeneration

    Henstridge, C., Tzioras, M. & Paolicelli, R. C., 26 Feb 2019, In : Frontiers in Cellular Neuroscience.

    Research output: Contribution to journalReview article

  54. Changing epidemiology of motor neurone disease in Scotland

    Leighton, D. J., Newton, J., Stephenson, L. J., Colville, S., Davenport, R., Gorrie, G., Morrison, I., Swingler, R., Chandran, S. & Pal, S., 25 Feb 2019, In : Journal of Neurology.

    Research output: Contribution to journalArticle

  55. Biomedicine, self and society: An agenda for collaboration and engagement

    Pickersgill, M., Chan, S., Haddow, G., Laurie, G., Sridhar, D., Sturdy, S. & Cunningham-burley, S., 23 Jan 2019, In : Wellcome Open Research . 4, p. 9

    Research output: Contribution to journalArticle

  56. Cognitive rehabilitation, self-management, psychotherapeutic and caregiver support interventions in progressive neurodegenerative conditions: A scoping review

    Clare, L., Teale, J. C., Toms, G., Kudlicka, A., Evans, I., Abrahams, S., Goldstein, L. H., Hindle, J. V., Ho, A. K., Jahanshahi, M., Langdon, D., Morris, R., Snowden, J. S., Davies, R., Markova, I., Busse, M. & Thompson-Coon, J., Jan 2019, In : Neurorehabilitation. 43, p. 443-471

    Research output: Contribution to journalArticle

  57. 2018
  58. Are PARKIN patients ideal candidates for dopaminergic cell replacement therapies?

    Kunath, T., Natalwala, A., Chan, C., Chen, Y., Stecher, B., Taylor, M., Khan, S. & Muqit, M. M. K., 26 Dec 2018, In : European Journal of Neuroscience.

    Research output: Contribution to journalArticle

  59. Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

    Šoltić, D., Bowerman, M., Stock, J., Shorrock, H. K., Gillingwater, T. H. & Fuller, H. R., 4 Dec 2018, In : Brain Sciences. 8, 12

    Research output: Contribution to journalArticle

  60. Engineering synucleinopathy-resistant human dopaminergic neurons by CRISPR-mediated deletion of the SNCA gene

    Chen, Y., Singh Dolt, K., Kriek, M., Baker, T., Downey, P., Drummond, N. J., Canham, M. A., Natalwala, A., Rosser, S. & Kunath, T., 25 Nov 2018, In : European Journal of Neuroscience. 15 p.

    Research output: Contribution to journalArticle

  61. Dynamic control of proinflammatory cytokines Il-1β and Tnf-α by macrophages in zebrafish spinal cord regeneration

    Tsarouchas, T., Wehner, D., Cavone, L., Munir, T., Keatinge, M., Lambertus, M., Underhill, A., Barrett, T., Kassapis, E., Ogryzko, N., Feng, Y., van Ham, T. J., Becker, T. & Becker, C. G., 7 Nov 2018, In : Nature Communications.

    Research output: Contribution to journalArticle

  62. Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

    Bowerman, M., Murray, L. M., Scamps, F., Schneider, B. L., Kothary, R. & Raoul, C., Nov 2018, In : European journal of medical genetics. 61, 11, p. 685-698 14 p.

    Research output: Contribution to journalReview article

  63. The Edinburgh Cognitive and Behavioural ALS Screen: Relationship to age, education, IQ and the Addenbrooke’s Cognitive Examination-III

    De Icaza Valenzuela, M., Bak, T., Pal, S. & Abrahams, S., 29 Oct 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. IAFD1491601.

    Research output: Contribution to journalArticle

  64. Glia as architects of central nervous system formation and function

    Allen, N. J. & Lyons, D. A., 12 Oct 2018, In : Science. 362, 6411, p. 181-185 5 p.

    Research output: Contribution to journalReview article

  65. UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

    Shorrock, H., van der Hoorn, D., Boyd, P., Llavero hurtado, M. D. C., Lamont, D. J., Wirth, B., Sleigh, J. N., Schiavone, G., Wishart, T., Groen, E. & Gillingwater, T., 25 Sep 2018, In : Brain. 141, 10, p. 2878–2894

    Research output: Contribution to journalArticle

  66. Mixed-species RNA-seq for elucidating non-cell-autonomous control of gene transcription

    Qiu, J., Dando, O., Baxter, P., Hasel, P., Heron, S., Simpson, T. & Hardingham, G., 24 Sep 2018, In : Nature Protocols. 26 p.

    Research output: Contribution to journalArticle

  67. ALS Specific cognitive and behaviour changes associated with advancing disease stage in ALS

    Crockford, C., Newton, J., Lonergan, K., Chiwera, T., Booth, T., Chandran, S., Colville, S., Heverin, M., Mays, I., Pal, S., Pender, N., Pinto-Grau, M., Radakovic, R., Shaw, C. E., Stephenson, L., Swingler, R. J., Vajda, A., Al-Chalabi, A., Hardiman, O. & Abrahams, S., 12 Sep 2018, In : Neurology. 91, 15, e1370.

    Research output: Contribution to journalArticle

  68. Sphingolipids Regulate Neuromuscular Synapse Structure and function in Drosophila

    West, R. J. H., Briggs, L., Perona Fjelstad, M., Ribchester, R. & Sweeney, S. T., 1 Sep 2018, In : Journal of Comparative Neurology. 526, 13, p. 1995-2009

    Research output: Contribution to journalArticle

  69. Future avenues for therapy development for spinal muscular atrophy

    Groen, E., 27 Aug 2018, In : Expert opinion on drug discovery.

    Research output: Contribution to journalEditorial

  70. Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

    Conlon, E. G., Fagegaltier, D., Agius, P., Davis-porada, J., Gregory, J., Hubbard, I., Kang, K., Kim, D., Phatnani, H., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F. & 21 others, Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., Cox, G. A., Thompson, L. M., Finkbeiner, S., Dardiotis, E., Miller, T. M., Chandran, S., Pal, S., Hornstein, E., Macgowan, D. J., Heiman-patterson, T., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Nath, A., Phatnani, H., Shneider, N. A. & Manley, J. L., 13 Jul 2018, In : eLIFE. 7

    Research output: Contribution to journalArticle

  71. TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis

    Majumder, V., Gregory, J. M., Barria, M. A., Green, A. & Pal, S., 28 Jun 2018, In : Bmc neurology. 18, 1, p. 90

    Research output: Contribution to journalArticle

  72. Factors influencing the implementation of cognitive and behavioural screening in motor neurone disease

    Hodgins, F., Bell, S. & Abrahams, S., 25 Jun 2018, In : British Journal of Neuroscience Nursing. 14, 3, p. 115-119

    Research output: Contribution to journalArticle

  73. α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease

    Ludtmann, M. HR., Angelova, P. R., Horrocks, M. H., Choi, M., Rodrigues, M., Baev, A. Y., Berezhnov, A. V., Yao, Z., Little, D., Banushi, B., Al-Menhali, A. S., Ranasinghe, R. T., Whiten, D. R., Yapom, R., Singh Dolt, K., Devine, M. J., Gissen, P., Kunath, T., Jaganjac, M., Pavlov, E. V. & 4 others, Klenerman, D., Klenerman, D., Abramov, A. Y. & Gandhi, S., 12 Jun 2018, In : Nature Communications. 9, 1, 16 p.

    Research output: Contribution to journalArticle

  74. The role of survival motor neuron protein (SMN) in protein homeostasis

    Chaytow, H., Huang, Y., Gillingwater, T. & Faller, K., 5 Jun 2018, In : Cellular and Molecular Life Sciences.

    Research output: Contribution to journalArticle

  75. Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation

    Bigley, V., Maisuria, S., Cytlak, U., Jardine, L., Care, M. A., Green, K., Gunawan, M., Milne, P., Dickinson, R., Wiscombe, S., Parry, D., Doffinger, R., Laurence, A., Fonseca, C., Stoevesandt, O., Gennery, A., Cant, A., Tooze, R., Simpson, A. J., Hambleton, S. & 3 others, Savic, S., Doody, G. & Collin, M., Jun 2018, In : Journal of Allergy and Clinical Immunology. 141, 6, p. 2234-2248 15 p.

    Research output: Contribution to journalArticle

  76. sAPPβ and sAPPα increase structural complexity and E/I input ratio in primary hippocampal neurons and alter Cahomeostasis and CREB1-signaling

    Hesse, R., von Einem, B., Wagner, F., Bott, P., Schwanzar, D., Jackson, R. J., Föhr, K. J., Lausser, L., Kroker, K. S., Proepper, C., Walther, P., Kestler, H. A., Spires-Jones, T. L., Boeckers, T., Rosenbrock, H. & von Arnim, C. A. F., Jun 2018, In : Experimental neurology. 304, p. 1-13 13 p.

    Research output: Contribution to journalArticle

  77. Cognitive-behavioural longitudinal assessment in ALS: The Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS)

    Poletti, B., Solca, F., Carelli, L., Faini, A., Madotto, F., Lafronza, A., Monti, A., Zago, S., Ciammola, A., Ratti, A., Ticozzi, N., Abrahams, S. & Silani, V., 26 May 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 5-6, p. 387-395

    Research output: Contribution to journalArticle

  78. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

    Groen, E., Perenthaler, E., Courtney, N., Jordan, C., Shorrock, H., van der Hoorn, D., Huang, Y., Murray, L., Viero, G. & Gillingwater, T., 22 May 2018, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  79. Emerging Links between Lipid Droplets and Motor Neuron Diseases

    Pennetta, G. & Welte, M. A., 21 May 2018, In : Developmental Cell. 45, 4, p. 427-432 6 p.

    Research output: Contribution to journalArticle

  80. Sensitivity and specificity of the ECAS in Parkinson’s disease and Progressive Supranuclear Palsy

    Foley, J. A., Niven, E. H., Paget, A., Bhatia, K. P., Farmer, S. F., Jarman, P. R., Limousin, P., Warner, T. T., Morris, H. R., Bak, T., Abrahams, S. & Cipolotti, L., 9 May 2018, In : Parkinson's Disease . 2018, 8 p., 2426012.

    Research output: Contribution to journalArticle

  81. Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells

    Perkins, E., Clarkson, Y., Suminaite, D., Lyndon, A. R., Tanaka, K., Rothstein, J. D., Skehel, P., Wyllie, D. & Jackson, M., 8 May 2018, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  82. 'It just opens up their world': Autism, empathy, and the therapeutic effects of equine interactions

    Malcolm, R., Ecks, S. & Pickersgill, M., 4 May 2018, In : Anthropology and Medicine. 25, 2, p. 220-234

    Research output: Contribution to journalArticle

  83. Interventions targeting glucocorticoid-Krüppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy mice

    Walter, L. M., Deguise, M-O., Meijboom, K. E., Betts, C. A., Ahlskog, N., van Westering, T. L. E., Hazell, G., McFall, E., Kordala, A., Hammond, S. M., Abendroth, F., Murray, L., Shorrock, H. K., Prosdocimo, D. A., Haldar, S. M., Jain, M. K., Gillingwater, T., Claus, P., Kothary, R., Wood, M. J. A. & 1 others, Bowerman, M., 4 May 2018, In : EBioMedicine.

    Research output: Contribution to journalArticle

  84. Isolation and RNA Extraction of Neurons, Macrophages and Microglia from Larval Zebrafish Brains

    Mazzolini, J., Chia, W. & Sieger, D., 24 Apr 2018, In : Journal of Visualized Experiments (JoVE). e57431.

    Research output: Contribution to journalArticle

  85. The Brain Health Index: Towards a combined measure of neurovascular and neurodegenerative structural brain injury

    Dickie, D. A., Valdes Hernandez, M., Makin, S., Staals, J., Wiseman, S., Bastin, M. & Wardlaw, J., 19 Apr 2018, In : International Journal of Stroke.

    Research output: Contribution to journalArticle

  86. The social sciences, humanities, and health

    Pickersgill, M., Chan, S., Haddow, G., Laurie, G., Sridhar, D., Sturdy, S. & Cunningham-Burley, S., 14 Apr 2018, In : The Lancet. 391, 10129, p. 1462–1463

    Research output: Contribution to journalComment/debate

  87. The spinal ependymal zone as a source of endogenous repair cells across vertebrates

    Becker, C. G., Becker, T. & Hugnot, J-P., 9 Apr 2018, In : Progress in neurobiology.

    Research output: Contribution to journalArticle

  88. Myelination of neuronal cell bodies when myelin supply exceeds axonal demand

    Gois De Almeida, R., Pan, S., Cole, K. L. H., Williamson, J., Early, J., Czopka, T., Klingseisen, A., Chan, J. R. & Lyons, D., 5 Apr 2018, In : Current Biology.

    Research output: Contribution to journalArticle

  89. Cognitive phenotypes of sequential staging in amyotrophic lateral sclerosis

    Lulé, D., Böhm, S., Muller, H-P., Aho-Özhan, H., Keller, J., Gorges, M., Loose, M., Weishaupt, J., Uttner, I., Pinkhardt, E. H., Kassubek, J., Del Tredici, K., Braak, H., Abrahams, S. & Ludolph, A. C., Apr 2018, In : Cortex. 101, p. 163-171

    Research output: Contribution to journalArticle

  90. Effects of Class II-Selective Histone Deacetylase Inhibitor on Neuromuscular Function and Disease Progression in SOD1-ALS Mice

    Buonvicino, D., Felici, R., Ranieri, G., Caramelli, R., Lapucci, A., Cavone, L., Muzzi, M., Di Pietro, L., Bernardini, C., Zwergel, C., Valente, S., Mai, A. & Chiarugi, A., 26 Mar 2018, In : Neuroscience. 379

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  91. Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases

    Connolly, N. M. C., Theurey, P., Adam-Vizi, V., Bazan, N. G., Bernardi, P., Bolaños, J. P., Culmsee, C., Dawson, V. L., Deshmukh, M., Duchen, M. R., Düssmann, H., Fiskum, G., Galindo, M. F., Hardingham, G. E., Hardwick, J. M., Jekabsons, M. B., Jonas, E. A., Jordán, J., Lipton, S. A., Manfredi, G. & 26 others, Mattson, M. P., McLaughlin, B., Methner, A., Murphy, A. N., Murphy, M. P., Nicholls, D. G., Polster, B. M., Pozzan, T., Rizzuto, R., Satrústegui, J., Slack, R. S., Swanson, R. A., Swerdlow, R. H., Will, Y., Ying, Z., Joselin, A., Gioran, A., Moreira Pinho, C., Watters, O., Salvucci, M., Llorente-Folch, I., Park, D. S., Bano, D., Ankarcrona, M., Pizzo, P. & Prehn, J. H. M., 25 Mar 2018, In : Cell Death and Differentiation. 25, 3, p. 542-572 31 p.

    Research output: Contribution to journalReview article

  92. TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

    White, M. A., Kim, E., Duffy, A., Adalbert, R., Phillips, B. U., Peters, O. M., Stephenson, J., Yang, S., Massenzio, F., Lin, Z., Andrews, S., Segonds-Pichon, A., Metterville, J., Saksida, L. M., Mead, R., Ribchester, R., Barhomi, Y., Serre, T., Coleman, M. P., Fallon, J. & 3 others, Bussey, T. J., Brown Jr, R. H. & Sreedharan, J., 19 Mar 2018, In : Nature Neuroscience.

    Research output: Contribution to journalArticle

  93. Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology

    Thompson, L. W., Morrison, K., Shirran, S. L., Groen, E., Gillingwater, T., Botting, C. H. & Sleeman, J., 5 Mar 2018, In : Journal of Cell Science.

    Research output: Contribution to journalArticle

  94. Developmental and Degenerative Cardiac Defects in the Taiwanese Mouse Model of Severe Spinal Muscular Atrophy

    Maxwell, G. K., Szunyogova, E., Shorrock, H., Gillingwater, T. & Parson, S. H., 22 Feb 2018, In : Journal of Anatomy.

    Research output: Contribution to journalArticle

  95. Tumor initiating cells induce Cxcr4 mediated infiltration of pro-tumoral macrophages into the brain

    Chia, W., Mazzolini, J., Mione, M. & Sieger, D., 21 Feb 2018, In : eLIFE.

    Research output: Contribution to journalArticle

  96. Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands

    van Putten, M., Aartsma-Rus, A., Grounds, M. D., Kornegay, J. N., Mayhew, A., Gillingwater, T. H., Takeda, S., Rüegg, M. A., De Luca, A., Nagaraju, K. & Willmann, R., 21 Feb 2018, In : Journal of Neuromuscular Diseases. 5, 1, p. 29-34 6 p.

    Research output: Contribution to journalArticle

  97. Mitochondrial dysfunction and axon degeneration in progressive multiple sclerosis

    Campbell, G. & Mahad, D., 17 Feb 2018, In : FEBS Letters.

    Research output: Contribution to journalReview article

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