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

    Research output: Contribution to journalArticle

  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

  98. Advances in therapy for spinal muscular atrophy: promises and challenges

    Groen, E., Talbot, K. & Gillingwater, T., 9 Feb 2018, In : Nature Reviews Neurology.

    Research output: Contribution to journalArticle

  99. Erratum: Author Correction: Neurons and neuronal activity control gene expression in astrocytes to regulate their development and metabolism (Nature communications (2017) 8 (15132))

    Hasel, P., Dando, O., Jiwaji, Z., Baxter, P., Todd, A. C., Heron, S., Márkus, N. M., McQueen, J., Hampton, D. W., Torvell, M., Tiwari, S. S., McKay, S., Eraso-Pichot, A., Zorzano, A., Masgrau, R., Galea, E., Chandran, S., Wyllie, D. J. A., Simpson, T. I. & Hardingham, G. E., 6 Feb 2018, In : Nature Communications. 9, 1 p.

    Research output: Contribution to journalComment/debate

  100. Ropinirole and pramipexole promote structural plasticity in human iPSC- derived dopaminergic neurons via BDNF and mTOR signaling

    Collo, G., Cavalleri, L., Bono, F., Mora, C., Fedele, S., Invernizzi, R. W., Gennarelli, M., Piovani, G., Kunath, T., Millan, M. J., Merlo-Pich, E. & Spano, P., 4 Feb 2018, In : Neural plasticity. 2018, 15 p., 4196961.

    Research output: Contribution to journalArticle

  101. Synaptogyrin-3 mediates presynaptic dysfunction induced by Tau

    McInnes, J., Wierda, K., Snellinx, A., Wang, Y-C., Stancu, I-C., Apostolo, N., Gevaert, K., Dewachter, I., Spires-Jones, T., De Strooper, B., De Wit, J., Zhou, L. & Verstreken, P., 1 Feb 2018, In : Neuron.

    Research output: Contribution to journalArticle

  102. Restoration of anatomical continuity after spinal cord transection depends on Wnt/β-catenin signaling in larval zebrafish

    Wehner, D., Becker, T. & Becker, C. G., Feb 2018, In : Data in brief. 16, p. 65-70 6 p.

    Research output: Contribution to journalArticle

  103. Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis

    Henstridge, C. M., Sideris, D. I., Carroll, E., Rotariu, S., Salomonsson, S., Tzioras, M., McKenzie, C-A., Smith, C., von Arnim, C. A. F., Ludolph, A. C., Lulé, D., Leighton, D., Warner, J., Cleary, E., Newton, J., Swingler, R., Chandran, S., Gillingwater, T. H., Abrahams, S. & Spires-Jones, T. L., Feb 2018, In : Acta Neuropathologica. 135, 2, p. 213-226

    Research output: Contribution to journalArticle

  104. Multidimensional apathy: Evidence from Neurodegenerative Disease

    Radakovic, R. & Abrahams, S., 30 Jan 2018, In : Current Opinion in Behavioral Sciences. 22, p. 42-49 8 p.

    Research output: Contribution to journalArticle

  105. Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

    Shorrock, H. K., Gillingwater, T. H. & Groen, E. J. N., 29 Jan 2018, In : Drugs.

    Research output: Contribution to journalArticle

  106. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

    Thangaraj Selvaraj, B., Livesey, M., Zhao, C., Gregory, J., James, O. G., Cleary, E., Chouhan, A., Gane, A., Perkins, E., Dando, O., Lillico, S., Lee, Y., Nishimura, A. L., Poreci, U., Thankamony, S., Pray, M., Vasistha, N., Magnani, D., Borooah, S., Burr, K. & 12 others, Story, D., McCampbell, A., SHAW, C. E., Kind, P., Aitman, T., Whitelaw, C., Wilmut, I., Smith, C., Miles, G. B., Hardingham, G., Wyllie, D. & Chandran, S., 24 Jan 2018, In : Nature Communications. 9, 1, p. 347

    Research output: Contribution to journalArticle

  107. Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

    Keogh, M. J., Wei, W., Aryaman, J., Wilson, I., Talbot, K., Turner, M. R., McKenzie, C-A., Troakes, C., Attems, J., Smith, C., Al-Sarraj, S., Morris, C. M., Ansorge, O., Pickering-Brown, S., Jones, N., Ironside, J. W. & Chinnery, P. F., 13 Jan 2018, In : Journal of Neurology, Neurosurgery & Psychiatry.

    Research output: Contribution to journalArticle

  108. Coupled changes in hippocampal structure and cognitive ability in later life

    Anblagan, D., Valdes Hernandez, M., Ritchie, S. J., Aribisala, B., Royle, N., Hamilton, I., Cox, S., Gow, A., Pattie, A., Corley, J., Starr, J., Muñoz Maniega, S., Bastin, M., Deary, I. & Wardlaw, J., 4 Jan 2018, In : Brain and Behavior.

    Research output: Contribution to journalArticle

  109. Postsynaptic GABABRs Inhibit L-Type Calcium Channels and Abolish Long-Term Potentiation in Hippocampal Somatostatin Interneurons

    Booker, S. A., Loreth, D., Gee, A. L., Watanabe, M., Kind, P. C., Wyllie, D. J. A., Kulik, Á. & Vida, I., 2 Jan 2018, In : Cell Reports. 22, 1, p. 36-43 8 p.

    Research output: Contribution to journalArticle

  110. Apathy dimensions in Parkinson’s disease

    Radakovic, R., Davenport, R., Starr, J. M. & Abrahams, S., Jan 2018, In : International Journal of Geriatric Psychiatry. 33, 1, p. 151-158

    Research output: Contribution to journalArticle

  111. Brain cortical characteristics of lifetime cognitive ageing

    Cox, S., Bastin, M., Ritchie, S. J., Dickie, D. A., Liewald, D., Muñoz Maniega, S., Redmond, P., Royle, N., Pattie, A., Valdes Hernandez, M., Corley, J., Aribisala, B., McIntosh, A., Wardlaw, J. & Deary, I., Jan 2018, In : Brain Structure and Function. 223, 1, p. 509–518

    Research output: Contribution to journalArticle

  112. Brain age predicts mortality

    Cole, J., Ritchie, S. J., Bastin, M., Valdes Hernandez, M., Muñoz Maniega, S., Royle, N., Corley, J., Pattie, A., Harris, S., Zhang, Q., Wray, N. R., Redmond, P., Marioni, R., Starr, J., Cox, S., Wardlaw, J., Sharp, D. & Deary, I., 2018, In : Molecular Psychiatry. 23, p. 1385-1392 8 p.

    Research output: Contribution to journalArticle

  113. ECAS A-B-C: Alternate forms of the Edinburgh Cognitive and Behavioural ALS Screen

    Crockford, C., Kleynhans, M., Wilton, E., Radakovic, R., Newton, J., Niven, E., Al Chalabi, A., Hardiman, O., Bak, T. & Abrahams, S., 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 1-2, p. 57-64

    Research output: Contribution to journalArticle

  114. Measuring reliable change in cognition using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)

    Crockford, C., Newton, J., Lonergan, K., Madden, C., Mays, I., O’Sullivan, M., Costello, E., Pinto-Grau, M., Vajda, A., Heverin, M., Pender, N., Al Chalabi, A., Hardiman, O. & Abrahams, S., 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 1-2, p. 65-73 8 p.

    Research output: Contribution to journalArticle

  115. 2017
  116. A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria

    Harmon, M., Larkman, P., Hardingham, G., Jackson, M. & Skehel, P., 12 Dec 2017, In : Scientific Reports. 7, 1, 17467.

    Research output: Contribution to journalArticle

  117. Ca 2+ activity signatures of myelin sheath formation and growth in vivo

    Baraban, M., Koudelka, S. & Lyons, D. A., 11 Dec 2017, In : Nature Neuroscience.

    Research output: Contribution to journalArticle

  118. Proteomic analysis of postsynaptic proteins in regions of the human neocortex

    Roy, M., Sorokina, O., Skene, N., Simonnet, C., Mazzola, F., Zwart, R., Sher, E., Smith, C., Armstrong, J. D. & Grant, S., 4 Dec 2017, In : Nature Neuroscience. 21, 1

    Research output: Contribution to journalArticle

  119. Parvalbumin interneurons in the dorsal horn: it's not all about GABA

    Booker, S. A. & Wyllie, D. J. A., Dec 2017, In : Journal of Physiology. 595, 23

    Research output: Contribution to journalComment/debate

  120. Cellular and molecular anatomy of the human neuromuscular junction

    Jones, R., Harrison, C., Eaton, S. L., Llavero hurtado, M. D. C., Graham, L. C., Alkhammash, L., Oladiran, O. A., Gale, A., Lamont, D. J., Simpson, H., Simmen, M. W., Soeller, C., Wishart, T. & Gillingwater, T., 28 Nov 2017, In : Cell Reports. 21, 9, p. 2348–2356

    Research output: Contribution to journalArticle

  121. Synaptic phosphorylated α-synuclein in dementia with Lewy bodies

    Colom-Cadena, M., Pequeroles, J., Herrmann, A., Henstridge, C., Munoz-Llahuna, L., Querol-Vilaseca, M., San Martín-Paniello, C., Luque-Cabecerans, J., Clarimon, J., Belbin, O., Núñez-Llaves, R., Blesa, R., Smith, C., McKenzie, C-A., Frosch, M., Roe, A. D., Fortea, J., Andilla, J., Loza-Alvarez, P., Gelpi, E. & 3 others, Hyman, B., Spires-Jones, T. & Lleo, A., 21 Nov 2017, In : Brain.

    Research output: Contribution to journalArticle

  122. Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis.

    Fuller, H. R., Shorrock, H. K., Gillingwater, T., Pigott, A., Smith, V., Kulshrestha, R., Sewry, C. S. & Willis, T. A., 21 Nov 2017, In : Journal of Neuromuscular Diseases. 4, 4

    Research output: Contribution to journalArticle

  123. Transcriptional regulators of redox balance and other homeostatic processes with the potential to alter neurodegenerative disease trajectory

    Burnside, S. W. & Hardingham, G. E., 17 Nov 2017, In : Biochemical Society Transactions. 45, 6, p. 1295-1303 9 p.

    Research output: Contribution to journalArticle

  124. Molecular analysis of Axonal-Intrinsic and Glial-Associated co-regulation of Axon Degeneration

    Catenaccio, A., Llavero hurtado, M. D. C., Diaz, P., Lamont, D. J., Wishart, T. & Court, F. A., 9 Nov 2017, In : Cell Death and Disease. 8, 11, p. e3166

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  125. Clusterin protects neurons against intracellular proteotoxicity

    Gregory, J., Whiten, D. R., Brown, R. A., Barros, T. P., Kumita, J. R., Yerbury, J. J., Satapathy, S., McDade, K., Smith, C., Luheshi, L. M., Dobson, C. M. & Wilson, M. R., 7 Nov 2017, In : Acta neuropathologica communications. 5, 1, p. 81

    Research output: Contribution to journalArticle

  126. Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with autoinflammatory complications

    Mistry, A., Scambler, T., Parry, D., Wood, M., Barcenas-Morales, G., Carter, C., Doffinger, R. & Savic, S., 6 Nov 2017, In : Frontiers in Immunology. 8, NOV, 1485.

    Research output: Contribution to journalArticle

  127. Human brain-derived Aβ oligomers bind to synapses and disrupt synaptic activity in a manner that requires APP

    Wang, Z., Jackson, R., Hong, W., Taylor, W. M., Corbett, G. T., Moreno, A., Liu, W., Li, S., Frosch, M. P., Slutsky, I., Young-Pearse, T., Spires-Jones, T. & Walsh, D. M., 3 Nov 2017, In : Journal of Neuroscience.

    Research output: Contribution to journalArticle

  128. Risk and protective factors for structural brain ageing in the eighth decade of life

    Ritchie, S. J., Tucker-Drob, E. M., Cox, S., Dickie, D. A., Valdes Hernandez, M., Corley, J., Royle, N., Redmond, P., Muñoz Maniega, S., Pattie, A., Aribisala, B., Taylor, A., Clarke, T-K., Gow, A., Starr, J., Bastin, M., Wardlaw, J. & Deary, I., Nov 2017, In : Brain Structure and Function. 222, 8, p. 1-14 14 p.

    Research output: Contribution to journalArticle

  129. Proteomic profiling of neuronal mitochondria reveals modulators of the synaptic architecture

    Graham, L., Eaton, S., Brunton, P., Atrih, A., Smith, C., Lamont, D. J., Gillingwater, T., Pennetta, G., Skehel, P. & Wishart, T., 27 Oct 2017, In : Molecular Neurodegeneration. 12, 1, p. 77

    Research output: Contribution to journalArticle

  130. In vivo translatome profiling in spinal muscular atrophy reveals a role for SMN protein in ribosome biology

    Bernabò, P., Tebaldi, T., Groen, E., Lane, F. M., Perenthaler, E., Mattedi, F., Newbery, H. J., Zhou, H., Zuccotti, P., Potrich, V., Shorrock, H. K., Muntoni, F., Quattrone, A., Gillingwater, T. & Viero, G., 26 Oct 2017, In : Cell Reports. 21, 4, p. 953–965

    Research output: Contribution to journalArticle

  131. On Myelinated Axon Plasticity and Neuronal Circuit Formation and Function

    Almeida, R. G. & Lyons, D. A., 18 Oct 2017, In : Journal of Neuroscience. 37, 42, p. 10023-10034 12 p.

    Research output: Contribution to journalArticle

  132. July 2017 ENCALS statement on edaravone

    Al-Chalabi, A., Andersen, P. M., Chandran, S., Chio, A., Corcia, P., Couratier, P., Danielsson, O., de Carvalho, M., Desnuelle, C., Grehl, T., Grosskreutz, J., Holmøy, T., Ingre, C., Karlsborg, M., Kleveland, G., Christoph Koch, J., Koritnik, B., KuzmaKozakiewicz, M., Laaksovirta, H., Ludolph, A. & 21 others, McDermott, C., Meyer, T., Mitre Ropero, B., Mora Pardina, J., Nygren, I., Petri, S., Povedano Panades, M., Salachas, F., Shaw, P., Silani, V., Staaf, G., Svenstrup, K., Talbot, K., Tysnes, O-B., Van Damme, P., van der Kooi, A., Weber, M., Weydt, P., Wolf, J., Hardiman, O. & van den Berg, L. H., 4 Oct 2017, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-4 4 p.

    Research output: Contribution to journalArticle

  133. Sarm1 Deletion, but Not Wld(S), Confers Lifelong Rescue in a Mouse Model of Severe Axonopathy

    Gilley, J., Ribchester, R. R. & Coleman, M. P., 3 Oct 2017, In : Cell Reports. 21, 1, p. 10-16 7 p.

    Research output: Contribution to journalArticle

  134. Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

    Lawless, D., Mistry, A., Wood, P. M., Stahlschmidt, J., Arumugakani, G., Hull, M., Parry, D., Anwar, R., Carter, C. & Savic, S., 1 Oct 2017, In : Journal of Clinical Immunology. 37, 7, p. 617-622 6 p.

    Research output: Contribution to journalLetter

  135. Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo.

    Llavero hurtado, M. D. C., Fuller, H. R., Wong, A., Eaton, S., Gillingwater, T., Pennetta, G., Cooper, J. & Wishart, T., 29 Sep 2017, In : Scientific Reports. p. 7 1 p., 12412 .

    Research output: Contribution to journalArticle

  136. A synthetic cell permeable antioxidant protects neurons against acute oxidative stress

    Drummond, N., Davies, N. O., Lovett, J., Miller, M., Cook, G., Becker, T., Becker, C. G., McPhail, D. & Kunath, T., 19 Sep 2017, In : Scientific Reports. 7, 1, 11857.

    Research output: Contribution to journalArticle

  137. Changes in the coding/non-coding transcriptome and DNA methylome that define the Schwann cell repair phenotype after nerve injury

    Arthur-Farraj, P. J., Morgan, C. C., Adamowicz-Brice, M., Gomez-Sanchez, J. A., Fazal, S. V., Beucher, A., Razzaghi, B., Mirsky, R., Jessen, K. R. & Aitman, T., 12 Sep 2017, In : Cell Reports. 20, 11

    Research output: Contribution to journalArticle

  138. Multidimensional apathy and executive dysfunction in amyotrophic lateral sclerosis

    Radakovic, R., Stephenson, L., Newton, J., Crockford, C., Swingler, R., Chandran, S. & Abrahams, S., Sep 2017, In : Cortex. 94, p. 142–151

    Research output: Contribution to journalArticle

  139. Improved prediction of direction-dependent, acute axonal injury in piglets

    Atlan, L. S., Smith, C. & Margulies, S. S., 21 Aug 2017, In : Journal of Neuroscience Research.

    Research output: Contribution to journalArticle

  140. Drug discovery for remyelination and treatment of MS

    Cole, K. L. H., Early, J. J. & Lyons, D. A., 16 Aug 2017, In : Glia.

    Research output: Contribution to journalReview article

  141. Therapeutic strategies for spinal muscular atrophy: SMN and beyond

    Bowerman, M., Becker, C. G., Yáñez-Muñoz, R. J., Ning, K., Wood, M. J., Gillingwater, T. & Talbot, K., 2 Aug 2017, In : Disease Models & Mechanisms. 10, 8

    Research output: Contribution to journalArticle

  142. Bridging the Gap: large animal models in neurodegenerative research

    Eaton, S. & Wishart, T., Aug 2017, In : Mammalian Genome. 28, 7-8, p. 324-337 14 p.

    Research output: Contribution to journalReview article

  143. CREB Regulates Distinct Adaptive Transcriptional Programs in Astrocytes and Neurons

    Pardo, L., Valor, L. M., Eraso-Pichot, A., Barco, A., Golbano, A., Hardingham, G. E., Masgrau, R. & Galea, E., 25 Jul 2017, In : Scientific Reports. 7, 1, p. 6390

    Research output: Contribution to journalArticle

  144. Wnt signaling controls pro-regenerative Collagen XII in functional spinal cord regeneration in zebrafish

    Wehner, D., Tsarouchas, T., Michael, A., Haase, C., Weidinger, G., Reimer, M. M., Becker, T. & Becker, C. G., 25 Jul 2017, In : Nature Communications.

    Research output: Contribution to journalArticle

  145. Expansion of human midbrain floor plate progenitors from induced pluripotent stem cells increases dopaminergic neuron differentiation potential

    Fedele, S., Collo, G., Behr, K., Bischofberger, J., Muller, S., Kunath, T., Christensen, K., Gunder, A. L., Graf, M., Jagasia, R. & Taylor, V., 20 Jul 2017, In : Scientific Reports. 7, 1

    Research output: Contribution to journalArticle

  146. TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss

    Paolicelli, R. C., Jawaid, A., Henstridge, C. M., Valeri, A., Merlini, M., Robinson, J. L., Lee, E. B., Rose, J., Appel, S., Lee, V. M-Y., Trojanowski, J. Q., Spires-Jones, T., Schulz, P. E. & Rajendran, L., 19 Jul 2017, In : Neuron.

    Research output: Contribution to journalArticle

  147. Clinicians' attitudes towards cognitive and behavioural screening in motor neurone disease

    Crockford, C., Stockton, C. & Abrahams, S., 14 Jul 2017, In : British Journal of Neuroscience Nursing. 13, 3, p. 116-123

    Research output: Contribution to journalArticle

  148. Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells

    Thangaraj Selvaraj, B., Livesey, M. R. & Chandran, S., Jul 2017, In : Brain Pathology. 27, 4, p. 518-524 7 p.

    Research output: Contribution to journalArticle

  149. Improved reference tracts for unsupervised brain white matter tractography

    Muñoz Maniega, S., Bastin, M., Deary, I., Wardlaw, J. & Clayden, J. D., 22 Jun 2017, Medical Image Understanding and Analysis: 21st Annual Conference, MIUA 2017, Edinburgh, UK, July 11–13, 2017, Proceedings. p. 425-435 (Communications in Computer and Information Science).

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

  150. Neuroinflammation: Synapses pruned in lupus

    McGlasson, S. & Hunt, D., 22 Jun 2017, In : Nature.

    Research output: Contribution to journalComment/debate

  151. Well-being at the Polish Polar Station, Svalbard: Adaptation to extreme environments

    Temp, A., Lee, B. & Bak, T., 16 Jun 2017, The Interconnected Arctic: UArctic Congress 2016. Latola, K. & Savela, H. (eds.). Springer, p. 203-210 8 p. (Springer Polar Sciences).

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

  152. Dimethyl fumarate improves white matter function following severe hypoperfusion: involvement of microglia/macrophages and inflammatory mediators

    Fowler, J., Mcqueen, J., Holland, P., Manso Sanz, Y., Marangoni, M., Scott, F., Chisholm, E., Scannevin, R. H., Hardingham, G. & Horsburgh, K., 13 Jun 2017, In : Journal of Cerebral Blood Flow and Metabolism.

    Research output: Contribution to journalArticle

  153. Diffusion tensor MRI tractography reveals increased fractional anisotropy in arcuate fasciculus following music-cued motor training

    Moore, E., Schaefer, R., Bastin, M., Roberts, N. & Overy, K., 12 Jun 2017, In : Brain and Cognition. 116, p. 40-46

    Research output: Contribution to journalArticle

  154. Viral delivery of C9ORF72 hexanucleotide repeat expansions in mice lead to repeat length dependent neuropathology and behavioral deficits

    Herranz-Martin, S., Chandran, J., Lewis, K., Mulcahy, P., Higginbottom, A., Walker, C., Valenzuela, I. M-P. Y., Jones, R., Coldicott, I., Iannitti, T., Akaaboune, M., El-Khamisy, S. F., Gillingwater, T. H., Shaw, P. J. & Azzouz, M., 26 May 2017, In : Disease Models & Mechanisms.

    Research output: Contribution to journalArticle

  155. Regeneration of myelin sheaths of normal length and thickness in the zebrafish CNS correlates with growth of axons in caliber

    Karttunen, M., Czopka, T., Goedhart, M., Early, J. & Lyons, D., 25 May 2017, In : PLoS ONE.

    Research output: Contribution to journalArticle

  156. The Axonal Cytoskeleton and the Assembly of Nodes of Ranvier

    Ghosh, A., Sherman, D. & Brophy, P., 23 May 2017, In : The Neuroscientist .

    Research output: Contribution to journalArticle

  157. Healthy linguistic diet: The value of linguistic diversity and language learning across the lifespan

    Bak, T. & Mehmedbegovic, D., 21 May 2017, In : Languages, Society & Policy . 1, p. 1-9

    Research output: Contribution to journalArticle

  158. Reduce, Reuse, Recycle - Developmental Signals in Spinal Cord Regeneration

    Cardozo, M. J., Mysiak, K., Becker, T. & Becker, C. G., 11 May 2017, In : Developmental Biology.

    Research output: Contribution to journalArticle

  159. Tau association with synaptic vesicles causes presynaptic dysfunction

    Zhou, L., McInnes, J., Wierda, K., Holt, M., Herrmann, A., Jackson, R., Wang, Y-C., Swerts, J., Beyens, J., Miskiewicz, K., Vilain, S., Dewachter, I., Moechars, D., De Strooper, B., Spires-Jones, T., De Wit, J. & Verstreken, P., 11 May 2017, In : Nature Communications.

    Research output: Contribution to journalArticle

  160. Neurons and neuronal activity control gene expression in astrocytes to regulate their development and metabolism

    Hasel, P., Dando, O., Jiwaji, Z., Baxter, P., Todd, A. C., Heron, S., Márkus, N. M., Mcqueen, J., Hampton, D. W., Torvell, M., Tiwari, S. S., Mckay, S., Eraso-pichot, A., Zorzano, A., Masgrau, R., Galea, E., Chandran, S., Wyllie, D. J. A., Simpson, T. I. & Hardingham, G. E., 2 May 2017, In : Nature Communications. 8, p. 1-17 17 p., 15132.

    Research output: Contribution to journalArticle

  161. Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

    Boyd, P. J., Tu, W-Y., Shorrock, H. K., Groen, E. J. N., Carter, R. N., Powis, R. A., Thomson, S. R., Thomson, D., Graham, L. C., Motyl, A. A. L., Wishart, T. M., Highley, J. R., Morton, N. M., Becker, T., Becker, C. G., Heath, P. R. & Gillingwater, T. H., 20 Apr 2017, In : PLoS Genetics. 13, 4, e1006744.

    Research output: Contribution to journalArticle

  162. Respiration-deficient astrocytes survive as glycolytic cells in vivo

    Supplie, L. M., Düking, T., Campbell, G., Diaz, F., Moraes, C. T., Götz, M., Hamprecht, B., Boretius, S., Mahad, D. & Nave, K-A., 19 Apr 2017, In : Journal of Neuroscience.

    Research output: Contribution to journalArticle

  163. Detection of interferon alpha protein reveals differential levels and cellular sources in disease

    Rodero, M. P., Decalf, J., Bondet, V., Hunt, D., Rice, G. I., Werneke, S., McGlasson, S. L., Alyanakian, M-A., Bader-Meunier, B., Barnerias, C., Bellon, N., Belot, A., Bodemer, C., Briggs, T. A., Desguerre, I., Frémond, M-L., Hully, M., van den Maagdenberg, A. MJM., Melki, I., Meyts, I. & 15 others, Musset, L., Pelzer, N., Quartier, P., Terwindt, G. M., Wardlaw, J., Wiseman, S., Rieux-Laucat, F., Rose, Y., Neven, B., Hertel, C., Hayday, A., Albert, M. L., Rozenberg, F., Crow, Y. J. & Duffy, D., 18 Apr 2017, In : Journal of Experimental Medicine.

    Research output: Contribution to journalArticle

  164. The need for harmonization and innovation of neuropsychological assessment in neurodegenerative dementias in Europe: consensus document of the Joint Program for Neurodegenerative Diseases Working Group

    Costa, A., Bak, T., Caffarra, P., Caltagirone, C., Ceccaldi, M., Collette, F., Crutch, S., Della Sala, S., Démonet, J. F., Dubois, B., Duzel, E., Nestor, P., Papageorgiou, S., Salmon, E., Sikkes, S., Tiraboschi, P., van der Flier, W. M., Visser, P. J. & Cappa, S., 17 Apr 2017, In : Alzheimer's research & therapy. 9, 27, p. 1-15 15 p.

    Research output: Contribution to journalArticle

  165. Interactions of pathological proteins in neurodegenerative diseases

    Spires-Jones, T., Attems, J. & Thal, D. R., 11 Apr 2017, In : Acta Neuropathologica. p. 1-19

    Research output: Contribution to journalReview article

  166. Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice

    Davies, F., Hope, J., McLachlan, F., Nunez, F., Doig, J., Bengani, H., Smith, C. & Abbott, C. M., 5 Apr 2017, In : Scientific Reports. 46019 .

    Research output: Contribution to journalArticle

  167. Assembly of CNS Nodes of Ranvier in Myelinated Nerves is Promoted by the Axon Cytoskeleton

    Brivio, V., Faivre-Sarrailh, C., Peles, E., Sherman, D. & Brophy, P., 3 Apr 2017, In : Current Biology.

    Research output: Contribution to journalArticle

  168. Hippocampal morphology and cognitive functions in community-dwelling older people: the Lothian Birth Cohort 1936

    Valdes Hernandez, M., Cox, S., Kim, J., Royle, N., Muñoz Maniega, S., Gow, A., Anblagan, D., Bastin, M., Park, J., Starr, J., Wardlaw, J. & Deary, I., Apr 2017, In : Neurobiology of Aging. 52, p. 1-11 11 p.

    Research output: Contribution to journalArticle

  169. Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases

    Kline, R. A., Kaifer, K. A., Osman, E. Y., Carella, F., Tiberi, A., Ross, J., Pennetta, G., Lorson, C. L. & Murray, L., 31 Mar 2017, In : PLoS Genetics.

    Research output: Contribution to journalArticle

  170. Conjugal amyotrophic lateral sclerosis: A case report from Scotland

    Fernandes, P., MacLeod, M., Bateman, A. P., Abrahams, S. & Pal, S., 29 Mar 2017, In : Bmc neurology. 17, 1, 4 p., 64.

    Research output: Contribution to journalArticle

  171. Protocol for a systematic review and meta-analysis of experimental models of amyotrophic lateral sclerosis

    Gregory, J., Waldron, F. M., Soane, T., Fulton, L., Leighton, D., Chataway, J., Pal, S., Chandran, S. & Macleod, M. R., 22 Mar 2017, In : Evidence-based Preclinical Medicine. 3, 2, p. 17–19

    Research output: Contribution to journalArticle

  172. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

    McLaughlin, R. L., Schijven, D., Van Rheenen, W., Van Eijk, K. R., O'Brien, M., Kahn, R. S., Ophoff, R. A., Goris, A., Bradley, D. G., Al-Chalabi, A., Van Den Berg, L. H., Luykx, J. J., Hardiman, O., Veldink, J. H., Shatunov, A., Dekker, A. M., Diekstra, F. P., Pulit, S. L., Van Der Spek, R. A. A., Van Doormaal, P. T. C. & 416 others, Sproviero, W., Jones, A. R., Nicholson, G. A., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Bauer, D., Kahlke, T., Williams, K., Eftimov, F., Fogh, I., Ticozzi, N., Lin, K., Millecamps, S., Salachas, F., Meininger, V., Carvalho, M. D., Pinto, S., Mora, J. S., Rojas-Garcyá, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Pittman, A., Sidle, K., Fratta, P., Malaspina, A., Petri, S., Abdulla, S., Drepper, C., Sendtner, M., Meyer, T., Wiedau-Pazos, M., Lomen-Hoerth, C., Deerlin, V. M. V., Trojanowski, J. 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E., Lerer, B., Li, M., Li, T., Liang, K. Y., Lieberman, J., Limborska, S., Loughland, C. M., Lubinski, J., Lonnqvist, J., MacEk, M., Magnusson, P. K. E., Maher, B. S., Maier, W., Mallet, J., Marsal, S., Mattheisen, M., Mattingsdal, M., McCarley, R. W., McDonald, C., McIntosh, A. M., Meier, S., Meijer, C. J., Melegh, B., Melle, I., Mesholam-Gately, R. I., Metspalu, A., Michie, P. T., Milani, L., Milanova, V., Mokrab, Y., Morris, D. W., Mors, O., Murphy, K. C., Murray, R. M., Myin-Germeys, I., Muller-Myhsok, B., Nelis, M., Nenadic, I., Nertney, D. A., Nestadt, G., Nicodemus, K. K., Nikitina-Zake, L., Nisenbaum, L., Nordin, A., O'Callaghan, E., O'Dushlaine, C., Anthony O'Neill, F., Oh, S. Y., Olincy, A., Olsen, L., Vanos, J., Pantelis, C., Papadimitriou, G. N., Papiol, S., Parkhomenko, E., Pato, M. T., Paunio, T., Pejovic-Milovancevic, M., Perkins, D. O., Pietilainen, O., Pimm, J., Pocklington, A. J., Price, A., Pulver, A. E., Purcell, S. M., Quested, D., Rasmussen, H. B., Reichenberg, A., Reimers, M. A., Richards, A. L., Roffman, J. L., Roussos, P., Ruderfer, D. M., Salomaa, V., Sanders, A. R., Schall, U., Schubert, C. R., Schulze, T. G., Schwab, S. G., Scolnick, E. M., Scott, R. J., Seidman, L. J., Shi, J., Sigurdsson, E., Silagadze, T., Silverman, J. M., Sim, K., Slominsky, P., Smoller, J. W., So, H. C., Spencer, C. C. A., Stah, E. A., Stefansson, H., Steinberg, S., Stogmann, E., Straub, R. E., Strengman, E., Strohmaier, J., Scott Stroup, T., Subramaniam, M., Suvisaari, J., Svrakic, D. M., Szatkiewicz, J. P., Söderman, E., Thirumalai, S., Toncheva, D., Tosato, S., Veijola, J., Waddington, J., Walsh, D., Wang, D., Wang, Q., Webb, B. T., Weiser, M., Wildenauer, D. B., Williams, N. M., Williams, S., Witt, S. H., Wolen, A. R., Wong, E. H. M., Wormley, B. K., Xi, H. S., Zai, C. C., Zheng, X., Zimprich, F., Wray, N. R., Stefansson, K., Visscher, P. M., Adolfsson, R., Andreassen, O. A., Blackwood, D. H. R., Bramon, E., Buxbaum, J. D., Børglum, A. D., Darvasi, A., Domenici, E., Ehrenreich, H., Esko, T., Gejman, P. V., Gil, M., Gurling, H., Hultman, C. M., Iwata, N., Jablensky, A. V., Jonsson, E. G., Kendler, K. S., Kirov, G., Knight, J., Lencz, T., Levinson, D. F., Li, Q. S., Liu, J., Malhotra, A. K., McCarrol, S. A., McQuillin, A., Moran, J. L., Mortensen, P. B., Mowry, B. J., Owen, M. J., Palotie, A., Pato, C. N., Petryshen, T. L., Posthuma, D., Riley, B. P., Rujescu, D., Sham, P. C., Sklar, P., Clair, D. S., Weinberger, D. R., Wendland, J. R., Werge, T., Daly, M. J., Sullivan, P. F. & O'Donovan, M. C., 21 Mar 2017, In : Nature Communications. 8, 14774.

    Research output: Contribution to journalArticle

  173. Functional assessment of the NMDA receptor variant GluN2A (R586K)

    Marwick, K. F. M., Parker, P., Skehel, P., Hardingham, G. & Wyllie, D. J. A., 17 Mar 2017, In : Wellcome Open Research . 2, p. 20

    Research output: Contribution to journalArticle

  174. Genetic testing in ALS: A survey of current practices

    Vajda, A., McLaughlin, R. L., Heverin, M., Thorpe, O., Abrahams, S., Al-Chalabi, A. & Hardiman, O., 7 Mar 2017, In : Neurology. 88, 10, p. 991-999 9 p.

    Research output: Contribution to journalArticle

  175. Divergent neuroinflammatory regulation of microglial TREM expression and involvement of NF-κB

    Owens, R., Grabert, K., Davies, C., Alfieri, A., Antel, J. P., Healy, L. M. & McColl, B., 2 Mar 2017, In : Frontiers in Cellular Neuroscience. 11, 14 p., 56.

    Research output: Contribution to journalArticle

  176. Emerging therapies and challenges in Spinal Muscular Atrophy

    Farrar, M. A., Park, S. B., Vucic, S., Carey, K. A., Turner, B. J., Gillingwater, T., Swoboda, K. J. & Kiernan, M. C., Mar 2017, In : Annals of Neurology. 81, 3

    Research output: Contribution to journalArticle

  177. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

    Wei, W., Keogh, M. J., Wilson, I., Coxhead, J., Ryan, S., Rollinson, S., Griffin, H., Kurzawa-Akinibi, M., Santibanez Koref, M., Talbot, K., Turner, M. J., McKenzie, C-A., Troakes, C., Attems, J., Smith, C., Al-Sarraj, S., Morris, C. M., Ansorge, O., Pickering-Brown, S., Ironside, J. & 1 others, Chinnery, P. F., 2 Feb 2017, In : Acta neuropathologica communications.

    Research output: Contribution to journalArticle

  178. Impact of small vessel disease in the brain on gait and balance

    Pinter, D., Ritchie, S. J., Doubal, F., Gattringer, T., Morris, Z., Bastin, M., Valdes Hernandez, M., Royle, N., Corley, J., Muñoz Maniega, S., Pattie, A., Dickie, D. A., Staals, J., Gow, A., Starr, J., Deary, I., Enzinger, C., Fazekas, F. & Wardlaw, J., 30 Jan 2017, In : Scientific Reports. 7, 41637.

    Research output: Contribution to journalArticle

  179. Sideroflexin 3 is a α-synuclein-1 dependent mitochondrial protein 2 that regulates synaptic morphology

    Amorim, I., Graham, L., Carter, R. N., Morton, N. M., Hammachi, F., Kunath, T., Pennetta, G., Carpanini, S., Manson, J., Lamont, D. J., Wishart, T. & Gillingwater, T., 15 Jan 2017, In : Journal of Cell Science. 130, 2, p. 325-331

    Research output: Contribution to journalArticle

  180. Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

    Soreq, L., Rose, J., Soreq, E., Hardy, J., Trabzuni, D., Cookson, M. R., Smith, C., Ryten, M., Patani, R., Ule, J. & UK Brain Expression Consortium, 10 Jan 2017, In : Cell Reports. 18, 2, p. 557-570 14 p.

    Research output: Contribution to journalArticle

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    Keogh, M. J., Wei, W., Wilson I, I., Coxhead, J., Ryan, S., Rollinson, S., Griffin, H., Kurzawa-Akanbi, M., Santibanez-Koref, M., Talbot, K., Turner, M., McKenzie, C-A., Troakes, C., Attems, J., Smith, C., Al-Sarraj, S., Morris, C. M., Ansorge, O., Pickering-Brown, S., Ironside, J. & 1 others, Chinnery, P. F., 21 Dec 2016, In : Genome Research.

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  183. Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

    Black, H. A., Leighton, D. J., Cleary, E. M., Rose, E., Stephenson, L., Colville, S., Ross, D., Warner, J., Porteous, M., Gorrie, G. H., Swingler, R., Goldstein, D., Harms, M. B., Connick, P., Pal, S., Aitman, T. J. & Chandran, S., 21 Dec 2016, In : Neurobiology of Aging.

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  184. Chorioretinal thinning in chronic kidney disease links to inflammation and endothelial dysfunction

    Balmforth, C., van Bragt, J. J. M. H., Ruijs, T., Cameron, J., Kimmitt, R. A., Moorhouse, R., Czopek, A., Khei, H. M., Gallacher, P. J., Dear, J., Borooah, S., MacIntyre, I., Pearson, T. MC., Willox, L., Talwar, D., Tafflet, M., Roubeix, C., Sennlaub, F., Chandran, S., Dhillon, B. & 2 others, Webb, D. J. & Dhaun, N., 8 Dec 2016, In : JCI Insight. 1, 20

    Research output: Contribution to journalArticle

  185. Dawn of a new therapeutic era for spinal muscular atrophy

    Gillingwater, T. H., 6 Dec 2016, In : The Lancet.

    Research output: Contribution to journalArticle

  186. Efficient and versatile CRISPR engineering of human neurons in culture to model neurological disorders

    Shah, R. R., Cholewa-Waclaw, J., Davies, F. C. J., Paton, K. M., Chaligne, R., Heard, E., Abbott, C. M. & Bird, A. P., 15 Nov 2016, In : Wellcome Open Research .

    Research output: Contribution to journalArticle

  187. Rapamycin Regulates Autophagy and Cell Adhesion in Induced Pluripotent Stem Cells

    Kunath, T., Sotthibundhul, A., McDonagh, K., Von Kriegsheim, A., Garcia-Munoz, A., Klawiter, A., Thompson, K., Dev Chauhan, K., Krawczyk, J., McInerney, V., Dockery, P., Devine, M. J., Barry, F., O'Brien, T. & Shen, S., 15 Nov 2016, In : Stem Cell Research and Therapy. 7, 166

    Research output: Contribution to journalArticle

  188. Evidence for evolutionary divergence of activity-dependent gene expression in developing neurons

    Qiu, J., McQueen, J., Bilican, B., Dando, O., Magnani, D., Punovuori, K., Selvaraj, B. T., Livesey, M., Haghi, G., Heron, S., Burr, K., Patani, R., Rajan, R., Sheppard, O., Kind, P. C., Simpson, I., Tybulewicz, V. LJ., Wyllie, D. JA., Fisher, E. MC., Lowell, S. & 3 others, Chandran, S., Hardingham, G. E. & West, A. (ed.), 3 Nov 2016, In : eLIFE. 5, 21 p., e20337.

    Research output: Contribution to journalArticle

  189. Equine grass sickness, but not botulism, causes autonomic and enteric neurodegeneration and increases SNARE protein expression within neuronal perikarya

    McGorum, B., Scholes, S., Milne, E., Eaton, S., Wishart, T., Poxton, I., Moss, S., Wernery, U., Davey, T., Harris, J. & Pirie, S., Nov 2016, In : Equine Veterinary Journal. 48, 6, p. 786-791

    Research output: Contribution to journalArticle

  190. Regulation of quantal currents determines synaptic strength at neuromuscular synapses in larval Drosophila

    Powers, A. S., Grizzaffi, J., Ribchester, R. & Lnenicka, G. A., 25 Oct 2016, In : Pflugers Archiv - European Journal of Physiology. p. 1-10 10 p.

    Research output: Contribution to journalArticle

  191. Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-Neurofascin 155 antibodies

    Vallat, J-M., Yuki, N., Sekiguchi, K., Kokubun, N., Oka, N., Mathis, S., Magy, L., Sherman, D. L., Brophy, P. J. & Devaux, J. J., 24 Oct 2016, In : Neuromuscular Disorders.

    Research output: Contribution to journalArticle

  192. Survival of motor neurone protein is required for normal postnatal development of the spleen

    Thomson, A., Somers, E., Powis, R., Shorrock, H. K., Murphy, K., Swoboda, K. J., Gillingwater, T. & Parson, S. H., 11 Oct 2016, In : Journal of Anatomy.

    Research output: Contribution to journalArticle

  193. Survival Motor Neuron (SMN) protein is required for normal mouse liver development

    Szunyogova, E., Zhou, H., Maxwell, G. K., Powis, R., Muntoni, F., Gillingwater, T. & Parson, S. H., 4 Oct 2016, In : Scientific Reports.

    Research output: Contribution to journalArticle

  194. Early life characteristics and late life burden of cerebral small vessel disease in the Lothian Birth Cohort 1936

    Field, T. S., Doubal, F., Johnson, W., Backhouse, E., McHutchison, C., Cox, S., Corley, J., Pattie, A., Gow, A., Shenkin, S., Cvoro, V., Morris, Z., Staals, J., Bastin, M., Deary, I. & Wardlaw, J., 19 Sep 2016, In : Aging. 8, 9, p. 2039-2061

    Research output: Contribution to journalArticle

  195. Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

    Fuller, H. R., Gillingwater, T. & Wishart, T., Sep 2016, In : Neuromuscular Disorders. 26, 9, p. 560-569

    Research output: Contribution to journalLiterature review

  196. A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis

    McGeachan, A. J., Hobson, E. V., Al-Chalabi, A., Stephenson, J., Chandran, S., Crawley, F., Dick, D., Donaghy, C., Ellis, C. M., Gorrie, G., Hanemann, O. C., Harrower, T., Jung, A., Malaspina, A., Morrison, K. E., Orrell, R. W., Talbot, K., Turner, M. R., Williams, T. L., Young, C. A. & 2 others, Shaw, P. J. & McDermott, C. J., 31 Aug 2016, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-9 9 p.

    Research output: Contribution to journalArticle

  197. Protein Corona Modulates Uptake and Toxicity of Nanoceria via Clathrin-Mediated Endocytosis

    Mazzolini, J., Weber, R. J. M., Chen, H-S., Khan, A., Guggenheim, E., Shaw, R. K., Chipman, J. K., Viant, M. R. & Rappoport, J. Z., 31 Aug 2016, In : Biological bulletin. 231, 1, p. 40-60 21 p.

    Research output: Contribution to journalArticle

  198. "Phagosome Closure Assay" to Visualize Phagosome Formation in Three Dimensions Using Total Internal Reflection Fluorescent Microscopy (TIRFM)

    Marie-Anaïs, F., Mazzolini, J., Bourdoncle, P. & Niedergang, F., 26 Aug 2016, In : Journal of Visualized Experiments (JoVE). 114

    Research output: Contribution to journalArticle

  199. Idiopathic sclerosing orbital inflammation mimicking a malignant spindle cell tumor in a dog

    Rzechorzek, N., Smith, C., Schwarz, T., Liuti, T., Elders, R., Woods, S., Lawrence Rausch, J. & Marioni-Henry, K., 23 Aug 2016, In : Clinical Case Reports. 4, 10, p. 935-943 9 p.

    Research output: Contribution to journalArticle

  200. Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST

    Perkins, E. M., Suminaite, D., Clarkson, Y. L., Lee, S. K., Lyndon, A. R., Rothstein, J. D., Wyllie, D. J., Tanaka, K. & Jackson, M., 15 Aug 2016, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  201. Development and translation of therapies for spinal muscular atrophy

    Shorrock, H. K. & Gillingwater, T., 31 Jul 2016, In : European Medical Journal .

    Research output: Contribution to journalArticle

  202. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    Van Rheenen, W., Shatunov, A., Dekker, A. M., Mclaughlin, R. L., Diekstra, F. P., Pulit, S. L., Van Der Spek, R. A. A., Võsa, U., De Jong, S., Robinson, M. R., Yang, J., Fogh, I., Van Doormaal, P. T., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P., Van Eijk, K. R. & 157 others, Harschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-glavač, M., Koritnik, B., Zidar, J., Leonardis, L., Grošelj, L. D., Millecamps, S., Salachas, F., Meininger, V., De Carvalho, M., Pinto, S., Mora, J. S., Rojas-garcía, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Pittman, A., Sidle, K., Fratta, P., Malaspina, A., Topp, S., Petri, S., Abdulla, S., Drepper, C., Sendtner, M., Meyer, T., Ophoff, R. A., Staats, K. A., Wiedau-pazos, M., Lomen-hoerth, C., Van Deerlin, V. M., Trojanowski, J. Q., Elman, L., Mccluskey, L., Basak, A. N., Tunca, C., Hamzeiy, H., Parman, Y., Meitinger, T., Lichtner, P., Radivojkov-blagojevic, M., Andres, C. R., Maurel, C., Bensimon, G., Landwehrmeyer, B., Brice, A., Payan, C. A. M., Saker-delye, S., Dürr, A., Wood, N. W., Tittmann, L., Lieb, W., Franke, A., Rietschel, M., Cichon, S., Nöthen, M. M., Amouyel, P., Tzourio, C., Dartigues, J., Uitterlinden, A. G., Rivadeneira, F., Estrada, K., Hofman, A., Curtis, C., Blauw, H. M., Van Der Kooi, A. J., De Visser, M., Goris, A., Weber, M., Shaw, C. E., Smith, B. N., Pansarasa, O., Cereda, C., Del Bo, R., Comi, G. P., D'alfonso, S., Bertolin, C., Sorarù, G., Mazzini, L., Pensato, V., Gellera, C., Tiloca, C., Ratti, A., Calvo, A., Moglia, C., Brunetti, M., Arcuti, S., Capozzo, R., Zecca, C., Lunetta, C., Penco, S., Riva, N., Padovani, A., Filosto, M., Muller, B., Stuit, R. J., Blair, I., Zhang, K., Mccann, E. P., Fifita, J. A., Nicholson, G. A., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Grosskreutz, J., Witte, O. W., Ringer, T., Prell, T., Stubendorff, B., Kurth, I., Hübner, C. A., Leigh, P. N., Casale, F., Chio, A., Beghi, E., Pupillo, E., Tortelli, R., Logroscino, G., Powell, J., Ludolph, A. C., Weishaupt, J. H., Robberecht, W., Van Damme, P., Franke, L., Pers, T. H., Brown, R. H., Glass, J. D., Landers, J. E., Hardiman, O., Andersen, P. M., Corcia, P., Vourc'h, P., Silani, V., Wray, N. R., Visscher, P. M., De Bakker, P. I. W., Van Es, M. A., Pasterkamp, R. J., Lewis, C. M., Breen, G., Al-chalabi, A., Van Den Berg, L. H. & Veldink, J. H., 25 Jul 2016, In : Nature Genetics.

    Research output: Contribution to journalArticle

  203. Herpes simplex encephalitis is linked with selective mitochondrial damage; a post-mortem and in vitro study

    Wnęk, M., Ressel, L., Ricci, E., Rodriguez-Martinez, C., Guerrero, J. C. V., Ismail, Z., Smith, C., Kipar, A., Sodeik, B., Chinnery, P. F., Solomon, T. & Griffiths, M. J., 25 Jul 2016, In : Acta Neuropathologica.

    Research output: Contribution to journalArticle

  204. Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

    Powis, R., Karyka, E., Boyd, P., Côme, J., Jones, R., Zheng, Y., Szunyogova, E., Groen, E., Hunter, G., Thomson, D., Wishart, T., Becker, C., Parson, S. H., Martinat, C., Azzouz, M. & Gillingwater, T., 21 Jul 2016, In : JCI Insight. 1, 11, e87908.

    Research output: Contribution to journalArticle

  205. The Impact of Bilingualism on Cognitive Functions Across Lifespan and in Brain Diseases

    Bak, T., 19 Jul 2016, p. 49. 1 p.

    Research output: Contribution to conferencePaper

  206. Evaluation of the Edinburgh Motor Asssessment (EMAS)

    Melchiorre, G., Bak, T., Connick, P., Colville, S. & Pal, S., 18 Jul 2016.

    Research output: Contribution to conferencePoster

  207. The Edinburgh cognitive and behavioural ALS Screen (ECAS): The effect of age, education and IQ

    de Icaza Valenzuela, M. M., Bak, T., Pal, S. & Abrahams, S., 18 Jul 2016, p. 369.

    Research output: Contribution to conferenceAbstract

  208. Bilateral lower limb weakness in acute severe ulcerative colitis

    Lynch, R. W., Soane, T., Gibson, R., Pal, S. & Lees, C. W., 2 Jul 2016, In : The Lancet. 388, 10039, p. 101-102

    Research output: Contribution to journalComment/debate

  209. Neurofilament depletion improves microtubule dynamics via modulation of Stat3/stathmin signaling

    Yadav, P., Selvaraj, B. T., Bender, F. L. P., Behringer, M., Moradi, M., Sivadasan, R., Dombert, B., Blum, R., Asan, E., Sauer, M., Julien, J. P. & Sendtner, M., 1 Jul 2016, In : Acta Neuropathologica. 132, 1, p. 93-110 18 p.

    Research output: Contribution to journalArticle

  210. Do white matter hyperintensities mediate the association between brain iron deposition and cognitive abilities in older people?

    Valdes Hernandez, M., Allerhand, M., Glatz, A., Clayson, L., Munoz-Maniega, S., Gow, A., Royle, N., Bastin, M., Starr, J., Deary, I. & Wardlaw, J., Jul 2016, In : European Journal of Neurology. 23, p. 1202-1209

    Research output: Contribution to journalArticle

  211. The impact of bilingualism on cognitive functions across the lifespan and in brain diseases

    Bak, T., Jul 2016, p. 887.

    Research output: Contribution to conferenceAbstract

  212. Counting the cost of spinal muscular atrophy

    Gillingwater, T., 30 Jun 2016, In : Journal of Medical Economics.

    Research output: Contribution to journalArticle

  213. Adaptive regulation of the brain's antioxidant defences by neurons and astrocytes

    Baxter, P. S. & Hardingham, G. E., 27 Jun 2016, In : Free Radical Biology and Medicine.

    Research output: Contribution to journalArticle

  214. How lay health workers tailor in effective health behaviour change interventions: A protocol for a systematic review

    Hodgins, F., Gnich, W., Ross, A. J., Sherriff, A. & Worlledge-Andrew, H., 16 Jun 2016, In : Systematic Reviews. 5, 102

    Research output: Contribution to journalArticle

  215. Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions

    Cleary, E. M., Pal, S., Azam, T., Moore, D. J., Swingler, R., Gorrie, G., Stephenson, L., Colville, S., Chandran, S., Porteous, M. & Warner, J. P., 7 Jun 2016, In : Molecular and Cellular Probes.

    Research output: Contribution to journalArticle

  216. A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis

    Muller, H-P., R Turner, M., Grosskreutz, J., Abrahams, S., Bede, P., Govind, V., Prudlo, J., Ludolph, A. C., Filippi, M. & Kassubek, J., 1 Jun 2016, In : Journal of Neurology, Neurosurgery & Psychiatry. 87, 6, p. 570-579 10 p.

    Research output: Contribution to journalArticle

  217. Clinicopathological case: rapid cognitive decline in an older man

    Scott, S., Chataway, J., Stone, J., Smith, C. & Davenport, R., 1 Jun 2016, In : Practical neurology.

    Research output: Contribution to journalArticle

  218. The FTD-ALS Spectrum

    Bak, T. & Abrahams, S., Jun 2016, Hodges' Frontotemporal Dementia. Dickerson, B. C. (ed.). 2nd edition ed. Cambridge University Press, p. 69-81 14 p. 6

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  219. “Assessment of Neuropsychology in ALS and FTD”

    Bak, T., Jun 2016.

    Research output: Contribution to conferenceAbstract

  220. Functional foreign accent syndrome

    Lee, O., Ludwig, L., Davenport, R. & Stone, J., 27 May 2016, In : Practical neurology.

    Research output: Contribution to journalArticle

  221. The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS)

    Poletti, B., Solca, F., Carelli, L., Madotto, F., Lafronza, A., Faini, A., Monti, A., Zago, S., Calini, D., Tiloca, C., Doretti, A., Verde, F., Ratti, A., Ticozzi, N., Abrahams, S. & Silani, V., 24 May 2016, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-10

    Research output: Contribution to journalArticle

  222. Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

    Sanhueza, M., Kubasik-thayil, A. & Pennetta, G., 12 May 2016, In : Journal of Visualized Experiments (JoVE). 111

    Research output: Contribution to journalArticle

  223. Idiopathic intracranial hypertension

    Wilkinson, T. & Davenport, R., 11 May 2016, In : British journal of hospital medicine. 77, 5, p. C70-3

    Research output: Contribution to journalArticle

  224. Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

    Hunter, G., Powis, R., Jones, R., Groen, E., Shorrock, H. K., Lane, F., Zheng, Y., Sherman, D., Brophy, P. & Gillingwater, T., 11 May 2016, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle

  225. Imaging signatures of meningioma and low-grade glioma: a diffusion tensor, magnetization transfer and quantitative longitudinal relaxation time MRI study

    Piper, R. J., Mikhael, S., Wardlaw, J., Laidlaw, D. H., Whittle, I. & Bastin, M., May 2016, In : Magnetic Resonance Imaging. 34, p. 596-602

    Research output: Contribution to journalArticle

  226. The Edinburgh Social Cognition Test (ESCoT): A novel test of social cognition.

    Baksh, A., Abrahams, S., Auyeung, B. & MacPherson, S. E., 28 Apr 2016, (Unpublished).

    Research output: Contribution to conferencePoster

  227. Synaptic pathology: a shared mechanism in neurological disease

    Henstridge, C. M., Pickett, E. & Spires-Jones, T. L., 20 Apr 2016, In : Ageing research reviews.

    Research output: Contribution to journalArticle

  228. Enhanced Creutzfeldt-Jakob disease surveillance in the older population in the UK: Biochemical analysis for PrPSc

    Yull, H., Peden, A., Smith, C., Ironside, J., Knight, R., Head, M. & Molesworth, A., 18 Apr 2016, In : Prion. 10, Suppt. 1, p. S93-S93 1 p., P-114.

    Research output: Contribution to journalMeeting abstract

  229. Kif13b Regulates PNS and CNS Myelination Through the Dlg1 Scaffold

    Noseda, R., Guerrero-Valero, M., Alberizzi, V., Previtali, S. C., Sherman, D., Palmisano, M., Huganir, R. L., Nave, K-A., Cuenda, A., Feltri, M. L., Brophy, P. & Bolino, A., 12 Apr 2016, In : PLoS Biology. 14, 4

    Research output: Contribution to journalArticle

  230. Expanding the phenotypic associations of globular glial tau subtypes

    Burrell, J. R., Forrest, S., Bak, T., Hodges, J. R., Halliday, G. M. & Kril, J. J., 8 Apr 2016, In : Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring. 4, p. 6–13

    Research output: Contribution to journalArticle

  231. Hippocampal abnormalities and sudden childhood death

    Smith, C., 30 Mar 2016, In : Forensic Science, Medicine, and Pathology.

    Research output: Contribution to journalComment/debate

  232. Modeling ALS with motor neurons derived from human induced pluripotent stem cells

    Sances, S., Bruijn, L. I., Chandran, S., Eggan, K., Ho, R., Klim, J. R., Livesey, M., Lowry, E., Macklis, J. D., Rushton, D., Sadegh, C., Sareen, D., Wichterle, H., Zhang, S-C. & Svendsen, C. N., 29 Mar 2016, In : Nature Neuroscience. 19, 4, p. 542-553 12 p.

    Research output: Contribution to journalLiterature review

  233. Trait Conscientiousness and the Personality Meta-Trait Stability are Associated with Regional White Matter Microstructure

    Lewis, G. J., Cox, S., Booth, T., Muñoz Maniega, S., Royle, N., Valdes Hernandez, M., Wardlaw, J., Bastin, M. & Deary, I., 24 Mar 2016, In : Social Cognitive and Affective Neuroscience.

    Research output: Contribution to journalArticle

  234. Spinal Motor Neurons are Regenerated after Mechanical Lesion and Genetic Ablation in Larval Zebrafish

    Ohnmacht, J., Yang, Y-J., Maurer, G. W., Barreiro-Iglesias, A., Wehner, D., Sieger, D., Becker, C. & Becker, T., 10 Mar 2016, In : Development.

    Research output: Contribution to journalArticle

  235. Adaptive preconditioning in neurological diseases -­ therapeutic insights from proteostatic perturbations

    Mollereau, B., Rzechorzek, N. M., Roussel, BD., Sedru, M., Van denBrink, D., Bailly-Maitre, B., Palladino, F., Medinas, DB., Domingos, PM., Hunot, S., Chandran, S., Birman, S., Baron, T., Vivien, D., Duarte, CB., Ryoo, HD., Steller, H., Urano, F., Chevet, E., Kroemer, G. & 4 others, Ciechanover, A., Calabrese, EJ., Kaufman, RJ. & Hetz, C., 2 Mar 2016, In : Brain Research.

    Research output: Contribution to journalArticle

  236. Neurodegenerative disorders: A clinical guide

    Hardiman, O., Kelly, J. A., Bak, T., Elamin, M., Mihaila, D. L., Shaw, P. J., Mitsumoto, H. & Shefner, J. M., 27 Feb 2016, Neurodegenerative Disorders. Hardiman, O., Doherty, P. C., Elamin, M. & Bede, P. (eds.). Cham: Springer International Publishing, p. 289-303 15 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  237. Role of neuropsychology in neurodegeneration

    Elamin, M., Bak, T., Doherty, C. P., Pender, N. & Abrahams, S., 27 Feb 2016, Neurodegenerative Disorders. Hardiman, O., Doherty, C. P., Elamin, M. & Bede, P. (eds.). Springer, p. 29-55

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  238. Hypothermic modulation of human cortical neurons to explore a role for tau protein in neuroprotection

    Rzechorzek, N. M., Connick, P., Livesey, M., Borooah, S., Patani, R., Burr, K., Story, D., Wyllie, D., Hardingham, G. & Chandran, S., 25 Feb 2016, In : The Lancet. 387, p. S88

    Research output: Contribution to journalMeeting abstract

  239. Temporal judgments in multi–sensory space

    Retsa, C., Naish, P., Bekinschtein, T. & Bak, T., 17 Feb 2016, In : Neuropsychologia.

    Research output: Contribution to journalArticle

  240. Epigenomic profiling of preterm infants reveals DNA methylation differences at sites associated with neural function

    Sparrow, S., Manning, J., Cartier, J., Anblagan, D., Bastin, M., Piyasena, C., Pataky, R., Moore, E. J., Semple, S. I., Wilkinson, A., Evans, M., Drake, A. J. & Boardman, J. P., 16 Jan 2016, In : Translational Psychiatry.

    Research output: Contribution to journalArticle

  241. Maturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytes

    Livesey, M., Magnani, D., Cleary, E. M., Vasistha, N., JAMES, O. T., Thangaraj Selvaraj, B., Burr, K., Story, D., SHAW, C. E., Kind, P., Hardingham, G., Wyllie, D. & Chandran, S., 13 Jan 2016, In : Stem Cells.

    Research output: Contribution to journalArticle

  242. Vascular defects and spinal cord hypoxia in spinal muscular atrophy

    Somers, E., Lees, RD., Hoban, K., Sleigh, JN., Zhou, H., Muntoni, F., Talbot, K., Gillingwater, T. & Parson, SH., 13 Jan 2016, In : Annals of Neurology.

    Research output: Contribution to journalArticle

  243. Hypothermic Preconditioning Reverses Tau Ontogenesis in Human Cortical Neurons and is Mimicked by Protein Phosphatase 2A Inhibition

    Rzechorzek, N. M., Connick, P., Livesey, M., Borooah, S., Patani, R., Burr, K., Story, D., Wyllie, D., Hardingham, G. & Chandran, S., 1 Jan 2016, In : EBioMedicine. 3, p. 141-154

    Research output: Contribution to journalArticle

  244. Enhanced CJD surveillance in the older population.

    Waddell, B., Logan, G., Pal, S., Holloway, G., Shenkin, S., Summers, D., Knight, R., Head, M., Smith, C. & Molesworth, A., 2016, In : European Journal of Neurology. 23, S1, p. 579-579 1 p., P22140.

    Research output: Contribution to journalMeeting abstract

  245. Language Learning as Cognitive Training: Attentional Improvement After a One-Week Intensive Gaelic Course

    Long, M., Vega Mendoza, M., Sorace, A. & Bak, T., 2016, p. 131.

    Research output: Contribution to conferencePoster

  246. Multidimensional apathy in ALS: Validation of the Dimensional Apathy Scale

    Radakovic, R., Stephenson, L., Colville, S., Swingler, R., Chandran, S. & Abrahams, S., 2016, In : Journal of Neurology, Neurosurgery & Psychiatry. 87, 6, p. 663-669 8 p.

    Research output: Contribution to journalArticle

  247. The effects of language use on lexical processing in bilinguals

    de Bruin, A., Della Sala, S. & Bak, T., 2016, In : Language, Cognition and Neuroscience. 31, 8, p. 967-974 8 p.

    Research output: Contribution to journalArticle

  248. The impact of bilinguism on cognitive aging and dementia: Finding a path through a forest of confounding variables

    Bak, T., 2016, In : Linguistic Approaches to Bilingualism. 6, 1-2, p. 205-226

    Research output: Contribution to journalArticle

  249. 2015
  250. VAMP4 is an Essential Cargo Molecule for Activity-Dependent Bulk Endocytosis

    Nicholson-Fish, J. C., Kokotos, A., Gillingwater, T., Smillie, K. & Cousin, M., 2 Dec 2015, In : Neuron. p. 973–984

    Research output: Contribution to journalArticle

  251. Brain volumetric changes and cognitive ageing during the eighth decade of life

    Ritchie, S. J., Dickie, D., Cox, S., Valdes Hernandez, M., Corley, J., Royle, N., Pattie, A., Aribisala, B., Redmond, P., Munoz-Maniega, S., Taylor, A., Sibbett, R., Gow, A., Starr, J., Bastin, M., Wardlaw, J. & Deary, I., Dec 2015, In : Human Brain Mapping. 36, p. 4910–4925

    Research output: Contribution to journalArticle

  252. Serotonin promotes motor neuron development and adult regeneration in zebrafish

    Mysiak, K. S., Barreiro-Iglesias, A., Reimer, M. M., Scott, A. L., Yang, Y., Becker, T. & Becker, C. G., Dec 2015, In : International journal of developmental neuroscience. 47, Pt A, p. 51

    Research output: Contribution to journalMeeting abstract

  253. The impact of bilingualism on cognitive outcome after stroke

    Alladi, S., Bak, T., Shailaja, M., Rajan, A., Jaydip Ray, C., Mioshi, E., Krovvidi, R., Surampudi, B., Duggirala, V. & Kaul, S., 19 Nov 2015, In : Stroke.

    Research output: Contribution to journalArticle

  254. Convergence of hippocampal pathophysiology in Syngap+/- and Fmr1-/y mice

    Barnes, S., Wijetunge, L., Jackson, A. D., Katsanevaki, D., Osterweil, E., Komiyama, N., Grant, S., Bear, M. F., Nägerl, U. V., Kind, P. & Wyllie, D., 11 Nov 2015, In : Journal of Neuroscience. 35, 45, p. 15073-15081

    Research output: Contribution to journalArticle

  255. Serotonin Promotes Development and Regeneration of Spinal Motor Neurons in Zebrafish

    Barreiro-Iglesias, A., Mysiak, K. S., Scott, A. L., Reimer, M. M., Yang, Y., Becker, C. & Becker, T., 3 Nov 2015, In : Cell Reports.

    Research output: Contribution to journalArticle

  256. Conserved Hippocampal Cellular Pathophysiology but Distinct Behavioural Deficits in a New Rat Model of FXS

    Till, S., Asiminas, A., Jackson, A., Katsanevaki, D., Barnes, S., Osterweil, E., Bear, M. F., Chattarji, S., Wood, E., Wyllie, D. & Kind, P., 1 Nov 2015, In : Human Molecular Genetics. 24, 21, p. 5977-5984

    Research output: Contribution to journalArticle

  257. Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a rat model of Fragile X Syndrome

    Till, S. M., Asiminas, A., Jackson, A. D., Katsanevaki, D., Barnes, S. A., Osterweil, E. K., Bear, M. F., Chattarji, S., Wood, E. R., Wyllie, D. J. A. & Kind, P. C., 1 Nov 2015, In : Human Molecular Genetics. 24, 21, p. 5977-84 8 p.

    Research output: Contribution to journalArticle

  258. Examining the effects of active versus inactive bilingualism on executive control in a carefully matched non-immigrant sample

    de Bruin, A., Bak, T. & Della Sala, S., Nov 2015, In : Journal of Memory and Language. 85, p. 15-26

    Research output: Contribution to journalArticle

  259. Cells: From Robert Hooke to cell therapy—a 350 year journey

    Hyllner, J., Mason, C. & Wilmut, I., 19 Oct 2015, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 370, 1680, 20150320.

    Research output: Contribution to journalLiterature review

  260. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

    Brennan, K. M., Bai, Y., Pisciotta, C., Wang, S., Feely, S. M. E., Hoegger, M., Gutmann, L., Moore, S. A., Gonzalez, M., Sherman, D. L., Brophy, P. J., Züchner, S. & Shy, M. E., Oct 2015, In : Neuromuscular Disorders.

    Research output: Contribution to journalArticle

  261. Brain iron deposits and lifespan cognitive ability

    Valdes Hernandez, M., Ritchie, S. J., Glatz, A., Allerhand, M., Munoz-Maniega, S., Gow, A., Royle, N., Bastin, M., Starr, J., Deary, I. & Wardlaw, J., Oct 2015, In : AGE. 37, p. 100

    Research output: Contribution to journalArticle

  262. Harmonization and innovation of cognitive, behavioural and functional assessment in neurodegenerative dementias

    Costa, A., Bak, T., Ceccaldi, M., Caffarra, P., Cappa, S., Crutch, S., Della Sala, S., Dubois, B., Duzel, E., Nestor, P., Papageorgiou, S., Rossor, M., Salmon, E., Scheltens, P., Flier, W. V. D., Jelle Visser, P., Waldemar, G., Tiraboschi, P., Sikkes, S., Collette, F. & 1 others, Démonet, J. F., Oct 2015, Joint Programme – Neurodegenerative Disease Research. 20 p.

    Research output: Book/ReportCommissioned report

  263. UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

    Groen, E. J. N. & Gillingwater, T. H., Oct 2015, In : Trends in Molecular Medicine. 21, 10, p. 622-32 11 p.

    Research output: Contribution to journalLiterature review

  264. Functional (Psychogenic) Cognitive Disorders: A Perspective from the Neurology Clinic

    Stone, J., Pal, S., Blackburn, D., Reuber, M., Thekkumpurath, P. & Carson, A., 24 Sep 2015, In : Journal of Alzheimer's Disease. 48 , Suppl 1, p. S5-S17

    Research output: Contribution to journalArticle

  265. Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy

    Murray, L. M., Beauvais, A., Gibeault, S., Courtney, N. L. & Kothary, R., 15 Sep 2015, In : Acta neuropathologica communications. 3, p. 55

    Research output: Contribution to journalArticle

  266. Proteomic profiling of cranial (superior) cervical ganglia reveals Beta-amyloid and ubiquitin proteasome system perturbations in an equine multiple system neuropathy.

    McGorum, B., Pirie, R., Eaton, S., Keen, J., Cumyn, EM., Arnott, DA., Chen, W., Lamont, DJ., Graham, L., Llavero Hurtado, M., Pemberton, A. & Wishart, T., 14 Sep 2015, In : Molecular and Cellular Proteomics. 14, 11, p. 3072-3086

    Research output: Contribution to journalArticle

  267. Equine Bone Marrow and Adipose Tissue Mesenchymal Stem/Stromal Cells Putatively Derive from Perivascular Stem Cells

    Esteves, C. L., Sheldrake, T., Sawson, L., Menghini, T., Khan, N., Peault, B. & Donadeu, F. X., 1 Sep 2015, In : Tissue Engineering, Part A. 21, p. S48-S49 2 p.

    Research output: Contribution to journalMeeting abstract

  268. Exploring the Dimensions of Apathy in ALS: Validation of the DAS

    Radakovic, R., Stephenson, L., Chandran, S., Swingler, R., Starr, J. M. & Abrahams, S., Sep 2015, In : Journal of Neurology, Neurosurgery & Psychiatry. 86, 9, p. e3

    Research output: Contribution to journalMeeting abstract

  269. Selective dendritic susceptibility to bioenergetic, excitotoxic and redox perturbations in cortical neurons

    Hasel, P., Mckay, S., Qiu, J. & Hardingham, G. E., Sep 2015, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1853, 9, p. 2066-2076 11 p.

    Research output: Contribution to journalArticle

  270. Deposition of amyloid β in the walls of human leptomeningeal arteries in relation to perivascular drainage pathways in cerebral amyloid angiopathy

    Keable, A., Fenna, K., Yuen, H. M., Johnston, D. A., Smyth, N. R., Smith, C., Salman, R. A-S., Samarasekera, N., Nicoll, J. A. R., Attems, J., Kalaria, R. N., Weller, R. O. & Carare, R. O., 29 Aug 2015, In : Biochimica et biophysica acta-Bioenergetics.

    Research output: Contribution to journalArticle

  271. Consent for brain tissue donation after intracerebral haemorrhage: a community-based study

    Samarasekera, N., Lerpiniere, C., Fonville, A., Farrall, A., Wardlaw, J., White, P., Torgersen, A., Ironside, J., Smith, C., Salman, R., Lothian Audit of the Treatment of Cerebral Haemorrhage (LATCH) collaborators & Reed, M. J., 24 Aug 2015, In : PLoS ONE. 10, 8, e0135043.

    Research output: Contribution to journalArticle

  272. Some reminiscences on studies of age-dependent and activity-dependent degeneration of sensory and motor endings in mammalian skeletal muscle

    Ribchester, R. R., Aug 2015, In : Journal of Anatomy. 227, 2, p. 231-6 6 p.

    Research output: Contribution to journalArticle

  273. Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy

    Doppler, K., Appeltshauser, L., Krämer, H. H., Ng, J. K. M., Meinl, E., Villmann, C., Brophy, P., Dib-hajj, S. D., Waxman, S. G., Weishaupt, A. & Sommer, C., 28 Jul 2015, In : PLoS ONE. 10, 7, p. e0134274

    Research output: Contribution to journalArticle

  274. Actin filament turnover drives leading edge growth during myelin sheath formation in the central nervous system

    Nawaz, S., Sánchez, P., Schmitt, S., Snaidero, N., Mitkovski, M., Velte, C., Brückner, B. R., Alexopoulos, I., Czopka, T., Jung, S. Y., Rhee, J. S., Janshoff, A., Witke, W., Schaap, I. A. T., Lyons, D. A. & Simons, M., 27 Jul 2015, In : Developmental Cell. 34, 2, p. 139-51 13 p.

    Research output: Contribution to journalArticle

  275. How far away is spinal muscular atrophy gene therapy?

    Gillingwater, T. H. & Murray, L. M., 18 Jul 2015, In : Expert review of neurotherapeutics. 15, 9, p. 965-8 4 p.

    Research output: Contribution to journalEditorial

  276. The association of aphasia and right-sided motor impairment in corticobasal syndrome

    Levin, J., Bak, T. H., Rominger, A., Mille, E., Arzberger, T., Giese, A., Ackl, N., Lorenzl, S., Bader, B., Patzig, M., Bötzel, K. & Danek, A., 5 Jul 2015, In : Journal of Neurology. 6 p.

    Research output: Contribution to journalArticle

  277. Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

    Sposito, T., Preza, E., Mahoney, C. J., Setó-Salvia, N., Ryan, N. S., Morris, H. R., Arber, C., Devine, M. J., Houlden, H., Warner, T. T., Bushell, T. J., Zagnoni, M., Kunath, T., Livesey, F. J., Fox, N. C., Rossor, M. N., Hardy, J. & Wray, S., 1 Jul 2015, In : Human Molecular Genetics. 24, 18, p. 5260-5269 10 p.

    Research output: Contribution to journalArticle

  278. Beyond a bigger brain: Multivariable structural brain imaging and intelligence

    Ritchie, S., Booth, T., Valdes Hernandez, M., Corley, J., Munoz-Maniega, S., Gow, A., Royle, N., Pattie, A., Karama, S., Starr, J., Bastin, M., Wardlaw, J. & Deary, I., Jul 2015, In : Intelligence. 51, p. 47–56 10 p.

    Research output: Contribution to journalArticle

  279. Generation of human pluripotent stem cell reporter lines for the isolation of and reporting on astrocytes generated from ventral midbrain and ventral spinal cord neural progenitors

    Holmqvist, S., Brouwer, M., Djelloul, M., Diaz, A. G., Devine, M. J., Hammarberg, A., Fog, K., Kunath, T. & Roybon, L., Jul 2015, In : Stem cell research. 15, 1, p. 203-220 18 p.

    Research output: Contribution to journalArticle

  280. IDENTIFICATION OF THE ORIGIN OF CIRCULATING ENDOTHELIAL PROGENITOR CELLS

    Fujisawa, T., Brittan, M., Tura-Ceide, O., Hunter, A., Mitchell, A., Vesey, A., Skinner, E. M., Medine, C., Gallogly, S., Hadoke, P. W. F., Keith, C., Sproul, A., Roddie, H., McQuaker, G., Wilmut, I. & Mills, N. L., Jul 2015, In : Atherosclerosis. 241, 1, p. E44-E44 1 p.

    Research output: Contribution to journalMeeting abstract

  281. Parietal TMS and binocular rivalry: stimulus and timing dependence resolve contradictory findings

    Schauer, G., Wood, D., Bak, T. & Podhortzer Carmel, D., Jul 2015, p. 61. 1 p.

    Research output: Contribution to conferencePoster

  282. Effects of a balanced translocation between chromosomes 1 and 11 disrupting the DISC1 locus on white matter integrity

    Whalley, H., Dimitrova, R., Sprooten, E., Dauvermann, M. R., Romaniuk, L., Duff, B., Watson, A., Moorhead, B., Bastin, M., Semple, S. I., Giles, S., Hall, J., Thomson, P., Roberts, N., Hughes, Z., J Brandon, N., Dunlop, J., Whitcher, B., Blackwood, D., McIntosh, A. & 1 others, Lawrie, S., 23 Jun 2015, In : PLoS ONE.

    Research output: Contribution to journalArticle

  283. Coupled changes in brain white matter microstructure and fluid intelligence in later life

    Ritchie, S., Bastin, M., Tucker-Drob, E. M., Munoz-Maniega, S., Engelhardt, L., Cox, S. R., Royle, N., Gow, A., Corley, J., Pattie, A., Taylor, A., Valdes Hernandez, M., Starr, J., Wardlaw, J. & Deary, I., 3 Jun 2015, In : The Journal of Neuroscience. 35, 22, p. 8672-8682 11 p.

    Research output: Contribution to journalArticle

  284. A systematic review of the validity and reliability of apathy scales in neurodegenerative conditions - CORRIGENDUM

    Radakovic, R., Harley, C., Abrahams, S. & Starr, J. M., Jun 2015, In : International Psychogeriatrics. 27, 6, p. 925 1 p.

    Research output: Contribution to journalArticle

  285. Hypothermic Preconditioning of Human Cortical Neurons Requires Proteostatic Priming

    Rzechorzek, N. M., Connick, P., Patani, R., Thangaraj Selvaraj, B. & Chandran, S., Jun 2015, In : EBioMedicine. 2, 6, p. 528–535

    Research output: Contribution to journalArticle

  286. Validation of the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS): A cognitive tool for motor disorders

    Niven, E., Newton, J., Foley, J., Colville, S., Swingler, R., Chandran, S., Bak, T. H. & Abrahams, S., Jun 2015, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16, 3-4, p. 172-179 8 p.

    Research output: Contribution to journalArticle

  287. Draft Genome Sequences of Six Different Staphylococcus epidermidis Clones, Isolated Individually from Preterm Neonates Presenting with Sepsis at Edinburgh's Royal Infirmary

    Walsh, P., Bekaert, M., Carroll, J., Manning, T., Kelly, B., O'Driscoll, A., Lu, X., Smith, C., Dickinson, P., Templeton, K., Ghazal, P. & Sleator, R. D., 14 May 2015, In : Genome announcements. 3, 3

    Research output: Contribution to journalArticle

  288. Neuronal development is promoted by weakened intrinsic antioxidant defences due to epigenetic repression of Nrf2

    Bell, K. F. S., Al-Mubarak, B., Martel, M-A., McKay, S., Wheelan, N., Hasel, P., Márkus, N. M., Baxter, P., Deighton, R. F., Serio, A., Bilican, B., Chowdhry, S., Meakin, P. J., Ashford, M. L. J., Wyllie, D. J. A., Scannevin, R. H., Chandran, S., Hayes, J. D. & Hardingham, G. E., 13 May 2015, In : Nature Communications. 6, 7066.

    Research output: Contribution to journalArticle

  289. Genomic landscape of rat strain and substrain variation

    Hermsen, R., de Ligt, J., Spee, W., Blokzijl, F., Schäfer, S., Adami, E., Boymans, S., Flink, S., van Boxtel, R., van der Weide, R. H., Aitman, T., Hübner, N., Simonis, M., Tabakoff, B., Guryev, V. & Cuppen, E., 6 May 2015, In : BMC Genomics. 16, p. 357

    Research output: Contribution to journalArticle

  290. Memory binding and white matter integrity in familial Alzheimer's disease

    Parra, M. A., Saarimäki, H., Bastin, M. E., Londoño, A. C., Pettit, L., Lopera, F., Della Sala, S. & Abrahams, S., 1 May 2015, In : Brain. 138, p. 1355-1369 15 p.

    Research output: Contribution to journalArticle

  291. Development of a global network of induced pluripotent stem cell haplobanks

    Wilmut, I., Leslie, S., Martin, N. G., Peschanski, M., Rao, M., Trounson, A., Turner, D., Turner, M. L., Yamanaka, S. & Taylor, C. J., May 2015, In : Regenerative medicine. 10, 3, p. 235-238 4 p.

    Research output: Contribution to journalEditorial

  292. Synaptic vesicle release regulates myelin sheath number of individual oligodendrocytes in vivo

    Mensch, S., Baraban, M., Almeida, R., Czopka, T., Ausborn, J., El Manira, A. & Lyons, D. A., May 2015, In : Nature Neuroscience. 18, 5, p. 628-30 3 p.

    Research output: Contribution to journalArticle

  293. Moving towards treatments for spinal muscular atrophy: hopes and limits

    Wirth, B., Barkats, M., Martinat, C., Sendtner, M. & Gillingwater, T. H., 28 Apr 2015, In : Expert opinion on emerging drugs. 20, 3, p. 353-6 4 p.

    Research output: Contribution to journalEditorial

  294. Intelligence in childhood and atherosclerosis of the carotid and peripheral arteries in later life: The Lothian Birth Cohort 1936

    Gale, C., Eadie, E., Thomas, A., Bastin, M., Starr, J., Wardlaw, J. & Deary, I., 27 Apr 2015, In : PLoS ONE. 10, 4, 7 p., e0125280.

    Research output: Contribution to journalArticle

  295. Clinical features of idiopathic inflammatory polymyopathy in the Hungarian Vizsla

    Tauro, A., Addicott, D., Foale, R. D., Bowman, C., Hahn, C., Long, S., Massey, J., Haley, A. C., Knowler, S. P., Day, M. J., Kennedy, L. J. & Rusbridge, C., 21 Apr 2015, In : BMC Veterinary Research. 11, 13 p., 97.

    Research output: Contribution to journalArticle

  296. Hypothermic preconditioning of human cortical neurons: coupling neuroprotection to ontogenic reversal of tau.

    Rzechorzek, N., Connick, P., Livesey, M., Patani, R., Borooah, S., Burr, K., Story, D., Wyllie, D., Hardingham, G. & Chandran, S., 12 Apr 2015, (Accepted/In press) p. BNA0176. 1 p.

    Research output: Contribution to conferenceAbstract

  297. Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

    Baxter, P. S., Bell, K. F. S., Hasel, P., Kaindl, A. M., Fricker, M., Thomson, D., Cregan, S. P., Gillingwater, T. H. & Hardingham, G. E., 9 Apr 2015, In : Nature Communications. 6, 6761.

    Research output: Contribution to journalArticle

  298. Network Analyses Reveal Novel Aspects of ALS Pathogenesis

    Sanhueza, M., Chai, A., Smith, C., McCray, B. A., Simpson, T. I., Taylor, J. P. & Pennetta, G., 31 Mar 2015, In : PLoS Genetics. 11, 3, e1005107.

    Research output: Contribution to journalArticle

  299. Heritability of fractional anisotropy in human white matter: A comparison of Human Connectome Project and ENIGMA-DTI data

    Kochunov, P., Jahanshad, N., Marcus, D., Winkler, A., Sprooten, E., Nichols, T. E., Wright, S. N., Hong, L. E., Patel, B., Behrens, T., Jbabdi, S., Andersson, J., Lenglet, C., Yacoub, E., Moeller, S., Auerbach, E., Ugurbil, K., Sotiropoulos, S. N., Brouwer, R. M., Landman, B. & 33 others, Lemaitre, H., den Braber, A., Zwiers, M. P., Ritchie, S., van Hulzen, K., Almasy, L., Curran, J., deZubicaray, G. I., Duggirala, R., Fox, P., Martin, N. G., McMahon, K. L., Mitchell, B., Olvera, R. L., Peterson, C., Starr, J., Sussmann, J., Wardlaw, J., Wright, M., Boomsma, D. I., Kahn, R., de Geus, E. J. C., Williamson, D. E., Hariri, A., van 't Ent, D., Bastin, M. E., McIntosh, A., Deary, I. J., Hulshoff Pol, H. E., Blangero, J., Thompson, P. M., Glahn, D. C. & Van Essen, D. C., 4 Mar 2015, In : NeuroImage. 111, p. 300-311 12 p.

    Research output: Contribution to journalArticle

  300. Pathological tau disrupts ongoing network activity

    Menkes-Caspi, N., Yamin, H. G., Kellner, V., Spires-Jones, T. L., Cohen, D. & Stern, E. A., 4 Mar 2015, In : Neuron. 85, 5, p. 959-66 8 p.

    Research output: Contribution to journalArticle

  301. Neural development and regeneration: it's all in your spinal cord

    Becker, C. G. & Diez Del Corral, R., 1 Mar 2015, In : Development. 142, 5, p. 811-816 6 p.

    Research output: Contribution to journalComment/debate

  302. Association of allostatic load with brain structure and cognitive ability in later life

    Booth, T., Royle, N. A., Corley, J., Gow, A. J., Valdés Hernández, M. D. C., Munoz-Maniega, S., Ritchie, S. J., Bastin, M. E., Starr, J. M., Wardlaw, J. M. & Deary, I. J., Mar 2015, In : Neurobiology of Aging. 36, 3, p. 1390-1399 10 p.

    Research output: Contribution to journalArticle

  303. Conformational dynamics of alpha-synuclein: insights from mass spectrometry

    Phillips, A. S., Gomes, A. F., Kalapothakis, J. M. D., Gillam, J. E., Gasparavicius, J., Gozzo, F. C., Kunath, T., MacPhee, C. & Barran, P. E., 25 Feb 2015, In : Analyst. 140, 9, p. 3070-3081 12 p.

    Research output: Contribution to journalArticle

  304. Neuronal Regeneration from Ependymo-Radial Glial Cells: Cook, Little Pot, Cook!

    Becker, C. G. & Becker, T., 23 Feb 2015, In : Developmental Cell. 32, 4, p. 516-527 12 p.

    Research output: Contribution to journalLiterature review

  305. Glial cell development and function in zebrafish

    Lyons, D. A. & Talbot, W. S., Feb 2015, In : Cold Spring Harbor perspectives in biology. 7, 2, p. a020586

    Research output: Contribution to journalLiterature review

  306. PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy

    Little, D., Valori, C. F., Mutsaers, C. A., Bennett, E. J., Wyles, M., Sharrack, B., Shaw, P. J., Gillingwater, T. H., Azzouz, M. & Ning, K., Feb 2015, In : Molecular Therapy. 23, 2, p. 270-277 8 p.

    Research output: Contribution to journalArticle

  307. Activity-dependent degeneration of axotomized neuromuscular synapses in Wld(S) mice

    Brown, R., Hynes-Allen, A., Swan, A. J., Dissanayake, K. N., Gillingwater, T. H. & Ribchester, R. R., 21 Jan 2015, In : Neuroscience. 290C, p. 300-320 21 p.

    Research output: Contribution to journalArticle

  308. Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

    Devlin, A. C., Burr, K., Borooah, S., Foster, J. D., Cleary, E. M., Geti, I., Vallier, L., Shaw, C. E., Chandran, S. & Miles, G. B., 12 Jan 2015, In : Nature Communications. 6, 5999.

    Research output: Contribution to journalArticle

  309. In-vitro models utilised to enhance our understanding of early mechanisms of misfolded protein formation, accumulation and clearance.

    King, D., Skehel, P. & Barron, R., 10 Jan 2015, Proceedings of the Keystone Symposium: Neuroinflammation in diseases of the central nervous system held 25-30 January 2015, Taos, USA.

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

  310. Carboxy terminus heat shock protein 70 interacting protein reduces tau-associated degenerative changes

    Saidi, L-J., Polydoro, M., Kay, K. R., Sanchez, L., Mandelkow, E-M., Hyman, B. T. & Spires-Jones, T. L., 1 Jan 2015, In : Journal of Alzheimer's Disease. 44, 3, p. 937-47 11 p.

    Research output: Contribution to journalArticle

  311. Generation of induced pluripotent stem cells from bovine epithelial cells and partial redirection toward a mammary phenotype in vitro

    Cravero, D., Martignani, E., Miretti, S., Accornero, P., Pauciullo, A., Sharma, R., Donadeu, X. & Baratta, M., 1 Jan 2015, In : Cellular Reprogramming. 17, 3, p. 211-220 10 p.

    Research output: Contribution to journalArticle

  312. Clearing the way for tau immunotherapy in Alzheimer's disease

    Herrmann, A. & Spires-Jones, T., Jan 2015, In : Journal of Neurochemistry. 132, 1, p. 1-4 4 p.

    Research output: Contribution to journalEditorial

  313. Mitochondrial fission augments capsaicin-induced axonal degeneration

    Chiang, H., Ohno, N., Hsieh, Y-L., Mahad, D. J., Kikuchi, S., Komuro, H., Hsieh, S-T. & Trapp, B. D., Jan 2015, In : Acta Neuropathologica. 129, 1, p. 81-96 16 p.

    Research output: Contribution to journalArticle

  314. A comparison of location of acute symptomatic versus 'silent' small vessel lesions

    Valdes Hernandez, M., Maconick, L. C., Munoz-Maniega, S., Wang, X., Wiseman, S., Armitage, P., Doubal, F., Makin, S., Sudlow, C., Dennis, M., Deary, I., Bastin, M. & Wardlaw, J., 2015, In : International Journal of Stroke. 10, p. 1044–1050

    Research output: Contribution to journalArticle

  315. Brain white matter structure and information processing speed in healthy older age

    Kuznetsova, K., Munoz-Maniega, S., Ritchie, S., Cox, S., Storkey, A., Starr, J., Wardlaw, J., Deary, I. & Bastin, M., 2015, In : Brain Structure and Function. 21, 6, p. 3323-3235

    Research output: Contribution to journalArticle

  316. In Praise of Novelty and Practice: Language Learning Improves and Maintains Attention

    Long, M., Vega Mendoza, M., Sorace, A. & Bak, T., 2015.

    Research output: Contribution to conferencePoster

  317. Neural mechanisms of Trail Making Test performance

    MacPherson, S. E., Cox, S., Aribisala, B., Bastin, M., Wardlaw, J. & Deary, I., 2015, (Unpublished).

    Research output: Contribution to conferencePaper

  318. Structural brain MRI trait polygenic score prediction of cognitive abilities

    Generation Scotland & SINAPSE Collaborative Grp, 2015, In : Twin Research and Human Genetics. 18, p. 738-745 8 p.

    Research output: Contribution to journalArticle

  319. The Edinburgh Social Cognition Test (ESCoT): A novel test of social cognition

    Baksh, A., Abrahams, S., Auyeung, B. & MacPherson, S. E., 2015, (Unpublished).

    Research output: Contribution to conferencePoster

  320. The Edinburgh Social Cognition Test: A novel measure of social cognition.

    Baksh, A., MacPherson, S. E., Auyeung, B. & Abrahams, S., 2015, (Unpublished).

    Research output: Contribution to conferencePoster

  321. The Utility of the Addenbrooke's Cognitive Examination Version Three in Early-Onset Dementia

    Elamin, M., Holloway, G., Bak, T. H. & Pal, S., 2015, In : Dementia and Geriatric Cognitive Disorders. 41, 1-2, p. 9-15 7 p.

    Research output: Contribution to journalArticle

  322. Total MRI load of cerebral small vessel disease and cognitive ability in older people

    Staals, J., Booth, T., Morris, Z., Bastin, M., Gow, A., Corley, J., Redmond, P., Starr, J., Deary, I. & Wardlaw, J., 2015, In : Neurobiology of Aging. 36, p. 2806-2811

    Research output: Contribution to journalArticle

  323. 2014
  324. Impairment of Visual Cognition in Progressive Multiple Sclerosis

    Connick, P., 5 Dec 2014, In : Journal of Multiple Sclerosis. 1, 7 p., 129.

    Research output: Contribution to journalArticle

  325. Developmental differences in the expression of FGF receptors between human and mouse embryos

    Kunath, T., Yamanaka, Y., Detmar, J., MacPhee, D., Caniggia, I., Rossant, J. & Jurisicova, A., 1 Dec 2014, In : Placenta. 35, 12, p. 1079-1088 10 p.

    Research output: Contribution to journalArticle

  326. Glial ankyrins facilitate paranodal axoglial junction assembly

    Chang, K-J., Zollinger, D. R., Susuki, K., Sherman, D. L., Makara, M. A., Brophy, P. J., Cooper, E. C., Bennett, V., Mohler, P. J. & Rasband, M. N., Dec 2014, In : Nature Neuroscience. 17, 12, p. 1673–1681

    Research output: Contribution to journalArticle

  327. Innovation (Re)Generation: Exploring Regenerative Medicine

    Barlow, E. & Profilm Media Ltd, 10 Nov 2014

    Research output: Non-textual formDigital or Visual Products

  328. A reduction in the human adenovirus virion size through use of a shortened fibre protein does not enhance muscle transduction following systemic or localised delivery in mice

    McFall, E. R., Murray, L. M., Lunde, J. A., Jasmin, B. J., Kothary, R. & Parks, R. J., Nov 2014, In : Virology. 468, p. 444-453 10 p.

    Research output: Contribution to journalArticle

  329. The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: implications for pre-clinical studies and clinical trials for spinal muscular atrophy

    Hunter, G., Roche, S. L., Somers, E., Fuller, H. R. & Gillingwater, T. H., Nov 2014, In : Neuromuscular Disorders. 24, 11, p. 973-7 5 p.

    Research output: Contribution to journalArticle

  330. A rise in NAD precursor nicotinamide mononucleotide (NMN) after injury promotes axon degeneration

    Di Stefano, M., Nascimento-Ferreira, I., Orsomando, G., Mori, V., Gilley, J., Brown, R., Janeckova, L., Vargas, M. E., Worrell, L. A., Loreto, A., Tickle, J., Patrick, J., Webster, J. R. M., Marangoni, M., Carpi, F. M., Pucciarelli, S., Rossi, F., Meng, W., Sagasti, A., Ribchester, R. R. & 3 others, Magni, G., Coleman, M. P. & Conforti, L., 17 Oct 2014, In : Cell Death and Differentiation.

    Research output: Contribution to journalArticle

  331. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

    Poulter, J. A., Murillo, G., Brookes, S. J., Smith, C. E. L., Parry, D. A., Silva, S., Kirkham, J., Inglehearn, C. F. & Mighell, A. J., 15 Oct 2014, In : Human Molecular Genetics. 23, 20, p. 5317-5324 8 p.

    Research output: Contribution to journalArticle

  332. Endomicroscopy and electromyography of neuromuscular junctions in situ

    Brown, R., Dissanayake, K. N., Skehel, P. A. & Ribchester, R. R., 1 Oct 2014, In : Annals of Clinical and Translational Neurology. p. 867-83

    Research output: Contribution to journalArticle

  333. Discovery of new genes that regulate CNS myelination using an ENU-based forward genetic screen in zebrafish

    Kegel, L., Rubio, M., Almeida, R., Czopka, T., Williamson, J. & Lyons, D. A., Oct 2014, In : Transgenic Research. 23, 5, p. 864-865 2 p.

    Research output: Contribution to journalMeeting abstract

  334. Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing

    Watson, C. M., El-Asrag, M., Parry, D. A., Morgan, J. E., Logan, C. V., Carr, I. M., Sheridan, E., Charlton, R., Johnson, C. A., Taylor, G., Toomes, C., McKibbin, M., Inglehearn, C. F. & Ali, M., 18 Aug 2014, In : PLoS ONE. 9, 8, e104281.

    Research output: Contribution to journalArticle

  335. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

    Boyer, J. G., Deguise, M-O., Murray, L. M., Yazdani, A., De Repentigny, Y., Boudreau-Lariviere, C. & Kothary, R., 15 Aug 2014, In : Human Molecular Genetics. 23, 16, p. 4249-4259 11 p.

    Research output: Contribution to journalArticle

  336. A cell culture model for monitoring α-synuclein cell-to-cell transfer

    Reyes, J. F., Olsson, T. T., Lamberts, J. T., Devine, M. J., Kunath, T. & Brundin, P., 12 Aug 2014, In : Neurobiology of disease. 77, p. 266-275 10 p.

    Research output: Contribution to journalArticle

  337. β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

    Clarkson, Y. L., Perkins, E. M., Cairncross, C. J., Lyndon, A. R., Skehel, P. A. & Jackson, M., 15 Jul 2014, In : Human Molecular Genetics. 23, 14, p. 3875-3882 8 p.

    Research output: Contribution to journalArticle

  338. Mitochondrial immobilization mediated by syntaphilin facilitates survival of demyelinated axons

    Ohno, N., Chiang, H., Mahad, D. J., Kidd, G. J., Liu, L., Ransohoff, R. M., Sheng, Z-H., Komuro, H. & Trapp, B. D., 8 Jul 2014, In : Proceedings of the National Academy of Sciences. 111, 27, p. 9953-8 6 p.

    Research output: Contribution to journalArticle

  339. The Smn-Independent Beneficial Effects of Trichostatin A on an Intermediate Mouse Model of Spinal Muscular Atrophy

    Liu, H., Yazdani, A., Murray, L. M., Beauvais, A. & Kothary, R., 1 Jul 2014, In : PLoS ONE. 9, 7, 9 p., 101225.

    Research output: Contribution to journalArticle

  340. Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology

    Bowerman, M., Michalski, J-P., Beauvais, A., Murray, L. M., DeRepentigny, Y. & Kothary, R., Jul 2014, In : Human Molecular Genetics. 23, 13, p. 3432-3444 13 p.

    Research output: Contribution to journalArticle

  341. Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles

    Sleigh, J. N., Burgess, R. W., Gillingwater, T. H. & Cader, M. Z., 30 Apr 2014, In : Journal of Neuroscience Methods. 227, p. 159-65 7 p.

    Research output: Contribution to journalArticle

  342. Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy

    Wishart, T. M., Mutsaers, C. A., Riessland, M., Reimer, M. M., Hunter, G., Hannam, M. L., Eaton, S. L., Fuller, H. R., Roche, S. L., Somers, E., Morse, R., Young, P. J., Lamont, D. J., Hammerschmidt, M., Joshi, A., Hohenstein, P., Morris, G. E., Parson, S. H., Skehel, P. A., Becker, T. & 4 others, Robinson, I. M., Becker, C. G., Wirth, B. & Gillingwater, T. H., Apr 2014, In : Journal of Clinical Investigation. 124, 4, p. 1821-1834

    Research output: Contribution to journalArticle

  343. Mutations in TJP2 cause progressive cholestatic liver disease

    Sambrotta, M., Strautnieks, S., Papouli, E., Rushton, P., Clark, B. E., Parry, D. A., Logan, C. V., Newbury, L. J., Kamath, B. M., Ling, S., Grammatikopoulos, T., Wagner, B. E., Magee, J. C., Sokol, R. J., Mieli-Vergani, G., Smith, J. D., Johnson, C. A., McClean, P., Simpson, M. A., Knisely, A. S. & 2 others, Bull, L. N. & Thompson, R. J., Apr 2014, In : Nature Genetics. 46, 4, p. 326-328 3 p.

    Research output: Contribution to journalArticle

  344. Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

    Wishard, TM., Mutsaers, C. A., Riesland, M., Reimer, M. M., Fuller, H. R., Hannam, M. L., Morse, R., Young, P. J., Lamont, D. J., Hammerschmidt, M., Morris, G. E., Parson, S. H., Skehel, P., Becker, T., Robinson, I. M., Becker, C., Wirth, B. & Gillingwater, T., 3 Mar 2014, In : Journal of Clinical Investigation.

    Research output: Contribution to journalArticle

  345. From germ cell preservation to regenerative medicine: an exciting research career in biotechnology

    Wilmut, I., Feb 2014, In : Annual Review of Animal Biosciences. 2, p. 1-21 21 p.

    Research output: Contribution to journalComment/debate

  346. The role of primary cilia in the development and disease of the retina

    Wheway, G., Parry, D. A. & Johnson, C. A., 1 Jan 2014, In : Organogenesis. 10, 1, p. 69-85 17 p.

    Research output: Contribution to journalReview article

  347. Metabolic support of axons by oligodendrocytes: Implications for multiple sclerosis

    Campbell, G. R. & Mahad, D. J., Jan 2014, In : Multiple Sclerosis and Related Disorders. 3, 1, p. 28-30 3 p.

    Research output: Contribution to journalComment/debate

  348. Cognitive functioning in late unbalanced bilingualism and multilingualism

    Vega Mendoza, M., Sorace, A. & Bak, T., 2014.

    Research output: Contribution to conferencePoster

  349. Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

    Murray, L., Gillingwater, T. H. & Kothary, R., 2014, In : Journal of Visualized Experiments (JoVE). 83

    Research output: Contribution to journalArticle

  350. Draft Genome Sequence of a Staphylococcus warneri Strain Isolated from a Preterm Neonate Blood Sepsis Patient at the Royal Infirmary, Edinburgh, Scotland

    Kropp, K. A., Lucid, A., Carroll, J., Belgrudov, V., Walsh, P., Kelly, B., Smith, C., Dickinson, P., O'Driscoll, A., Templeton, K., Ghazal, P. & Sleator, R. D., 2014, In : Genome announcements. 2, 5

    Research output: Contribution to journalArticle

  351. 2013
  352. Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism

    Poulter, J. A., Al-Araimi, M., Conte, I., Van Genderen, M. M., Sheridan, E., Carr, I. M., Parry, D. A., Shires, M., Carrella, S., Bradbury, J., Khan, K., Lakeman, P., Sergouniotis, P. I., Webster, A. R., Moore, A. T., Pal, B., Mohamed, M. D., Venkataramana, A., Ramprasad, V., Shetty, R. & 9 others, Saktivel, M., Kumaramanickavel, G., Tan, A., Mackey, D. A., Hewitt, A. W., Banfi, S., Ali, M., Inglehearn, C. F. & Toomes, C., 5 Dec 2013, In : American Journal of Human Genetics. 93, 6, p. 1143-1150 8 p.

    Research output: Contribution to journalArticle

  353. Sams, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in goosecoid

    Parry, D. A., Logan, C. V., Stegmann, A. P. A., Abdelhamed, Z. A., Calder, A., Khan, S., Bonthron, D. T., Clowes, V., Sheridan, E., Ghali, N., Chudley, A. E., Dobbie, A., Stumpel, C. T. R. M. & Johnson, C. A., 5 Dec 2013, In : American Journal of Human Genetics. 93, 6, p. 1135-1142 8 p.

    Research output: Contribution to journalArticle

  354. Control of synaptic vesicle endocytosis by an extracellular signalling molecule

    Smillie, K. J., Pawson, J., Perkins, E. M., Jackson, M. & Cousin, M. A., 3 Sep 2013, In : Nature Communications. 4, 2394.

    Research output: Contribution to journalArticle

  355. CHARACTERISATION OF CARDIOMYOCYTES DERIVED FROM HUMAN INDUCED PLURIPOTENT STEM (IPS) CELLS

    Medine, C., Perez, G., Sendfeld, F., Scornik, F., Mills, N., Wilmut, I. & Tura, O., May 2013, In : Heart. 99, p. A139-A139 1 p.

    Research output: Contribution to journalMeeting abstract

  356. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

    Jaureguiberry, G., De La Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., Poulter, J., Klootwijk, E., Robinette, S. L., Howie, A. J., Patel, V., Figueres, M. L., Stanescu, H. C., Issler, N., Nicholson, J. K., Bockenhauer, D., Laing, C., Walsh, S. B., McCredie, D. A., Povey, S. & 30 others, Asselin, A., Picard, A., Coulomb, A., Medlar, A. J., Bailleul-Forestier, I., Verloes, A., Le Caignec, C., Roussey, G., Guiol, J., Isidor, B., Logan, C., Shore, R., Johnson, C., Inglehearn, C., Al-Bahlani, S., Schmittbuhl, M., Clauss, F., Huckert, M., Laugel, V., Ginglinger, E., Pajarola, S., Spartà, G., Bartholdi, D., Rauch, A., Addor, M. C., Yamaguti, P. M., Safatle, H. P., Acevedo, A. C., Martelli-Júnior, H. & Dos Santos Netos, P. E., 1 Apr 2013, In : Nephron - Physiology. 122, 1-2, p. 1-6 6 p.

    Research output: Contribution to journalArticle

  357. Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

    Serio, A., Bilican, B., Barmada, S. J., Ando, D. M., Zhao, C., Siller, R., Burr, K., Haghi, G., Story, D., Nishimura, A. L., Carrasco, M. A., Phatnani, H. P., Shum, C., Wilmut, I., Maniatis, T., Shaw, C. E., Finkbeiner, S. & Chandran, S., 19 Mar 2013, In : Proceedings of the National Academy of Sciences. 110, 12, p. 4697–4702

    Research output: Contribution to journalArticle

  358. Reduced structural connectivity brain connectivity in amyotrophic lateral sclerosis

    Buchanan, C., Pettit, L. D., Bastin, M., Storkey, A. J. & Abrahams, S., 2013, Proceedings of the 17th Conference on Medical Image Understanding and Analysis. Claridge, E., Palmer, A. D. & Pitkeathly, W. T. E. (eds.). Medical Image Understanding and Analysis, p. 13 18 p.

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

  359. 2012
  360. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

    Lise, S., Clarkson, Y., Perkins, E., Kwasniewska, A., Akha, E. S., Schnekenberg, R. P., Suminaite, D., Hope, J., Baker, I., Gregory, L., Green, A., Allan, C., Lamble, S., Jayawant, S., Quaghebeur, G., Cader, M. Z., Hughes, S., Armstrong, R. J. E., Kanapin, A., Rimmer, A. & 12 others, Lunter, G., Mathieson, I., Cazier, J-B., Buck, D., Taylor, J. C., Bentley, D., McVean, G., Donnelly, P., Knight, S. J. L., Jackson, M., Ragoussis, J. & Nemeth, A. H., Dec 2012, In : PLoS Genetics. 8, 12, 14 p., ARTN e1003074.

    Research output: Contribution to journalArticle

  361. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

    Koenekoop, R. K., Wang, H., Majewski, J., Wang, X., Lopez, I., Ren, H., Chen, Y., Li, Y., Fishman, G. A., Genead, M., Schwartzentruber, J., Solanki, N., Traboulsi, E. I., Cheng, J., Logan, C. V., McKibbin, M., Hayward, B. E., Parry, D. A., Johnson, C. A., Nageeb, M. & 12 others, Poulter, J. A., Mohamed, M. D., Jafri, H., Rashid, Y., Taylor, G. R., Keser, V., Mardon, G., Xu, H., Inglehearn, C. F., Fu, Q., Toomes, C. & Chen, R., 1 Sep 2012, In : Nature Genetics. 44, 9, p. 1035-1039 5 p.

    Research output: Contribution to journalArticle

  362. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

    Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., Fonseca, D. J., Morgan, J. E., Allanore, Y., Fontenay, M., Wipff, J., Varret, M., Gibault, L., Dalantaeva, N., Korbonits, M., Zhou, B., Yuan, G., Harifi, G., Cefle, K., Palanduz, S. & 14 others, Akoglu, H., Zwijnenburg, P. J., Lichtenbelt, K. D., Aubry-Rozier, B., Superti-Furga, A., Dallapiccola, B., Accadia, M., Brancati, F., Sheridan, E. G., Taylor, G. R., Carr, I. M., Johnson, C. A., Markham, A. F. & Bonthron, D. T., 1 Aug 2012, In : Human Mutation. 33, 8, p. 1175-1181 7 p.

    Research output: Contribution to journalArticle

  363. Using human pluripotent stem cells to study post-transcriptional mechanisms of neurodegenerative diseases

    Patani, R., Sibley, C. R., Chandran, S. & Ule, J., 26 Jun 2012, In : Brain Research. 1462, p. 129-138 10 p.

    Research output: Contribution to journalArticle

  364. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)

    Poulter, J. A., Davidson, A. E., Ali, M., Gilmour, D. F., Parry, D. A., Mintz-Hittner, H. A., Carr, I. M., Bottomley, H. M., Long, V. W., Downey, L. M., Sergouniotis, P. I., Wright, G. A., MacLaren, R. E., Moore, A. T., Webster, A. R., Inglehearn, C. F. & Toomes, C., 1 May 2012, In : Investigative Ophthalmology and Visual Science. 53, 6, p. 2873-2879 7 p.

    Research output: Contribution to journalArticle

  365. Next generation sequencing identifies mutations in atonal homolog 7 (ATOH7) in families with global eye developmental defects

    Khan, K., Logan, C. V., Mckibbin, M., Sheridan, E., Elçioglu, N. H., Yenice, O., Parry, D. A., Fernandez-fuentes, N., Abdelhamed, Z. I. A., Al-maskari, A., Poulter, J. A., Mohamed, M. D., Carr, I. M., Morgan, J. E., Jafri, H., Raashid, Y., Taylor, G. R., Johnson, C. A., Inglehearn, C. F., Toomes, C. & 1 others, Ali, M., 1 Feb 2012, In : Human Molecular Genetics. 21, 4, p. 776-783 8 p., ddr509.

    Research output: Contribution to journalArticle

  366. Video Rating in Neurodegenerative Disease Clinical Trials: The Experience of PRION-1

    Carswell, C., Rañopa, M., Pal, S., Macfarlane, R., Siddique, D., Thomas, D., Webb, T., Wroe, S., Walker, S., Darbyshire, J., Collinge, J., Mead, S. & Rudge, P., Jan 2012, In : Dementia and geriatric cognitive disorders extra. 2, 1, p. 286-97 12 p.

    Research output: Contribution to journalArticle

  367. Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo

    Wishart, T. M., Rooney, T. M., Lamont, D. J., Wright, A. K., Morton, A. J., Jackson, M., Freeman, M. R. & Gillingwater, T. H., 2012, In : PLoS Genetics. 8, 8, e1002936.

    Research output: Contribution to journalArticle

  368. Pre- and post- operative cognitive functioning in patients with supratentorial meningioma

    Vega Mendoza, M., Luisa Sosa, A., Gomez-Llata Andrade, S., Aguilar-Castañeda, E., Bak, T. & Casasola-Castro, C., 2012.

    Research output: Contribution to conferencePoster

  369. 2011
  370. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

    Logan, C. V., Lucke, B., Pottinger, C., Abdelhamed, Z. A., Parry, D. A., Szymanska, K., Diggle, C. P., Van Riesen, A. V., Morgan, J. E., Markham, G., Ellis, I., Manzur, A. Y., Markham, A. F., Shires, M., Helliwell, T., Scoto, M., Hübner, C., Bonthron, D. T., Taylor, G. R., Sheridan, E. & 4 others, Muntoni, F., Carr, I. M., Schuelke, M. & Johnson, C. A., 1 Dec 2011, In : Nature Genetics. 43, 12, p. 1189-1193 5 p.

    Research output: Contribution to journalArticle

  371. Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

    Khan, K., Al-Maskari, A., McKibbin, M., Carr, I. M., Booth, A., Mohamed, M., Siddiqui, S., Poulter, J. A., Parry, D. A., Logan, C. V., Hashmi, A., Sahi, T., Jafri, H., Raashid, Y., Johnson, C. A., Markham, A. F., Toomes, C., Rice, A., Sheridan, E., Inglehearn, C. F. & 1 others, Ali, M., 1 Jun 2011, In : Investigative Ophthalmology and Visual Science. 52, 7, p. 4294-4299 6 p.

    Research output: Contribution to journalArticle

  372. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: A novel mutation and ultrastructural analyses of deciduous teeth

    El-Sayed, W., Shore, R. C., Parry, D. A., Inglehearn, C. F. & Mighell, A. J., 1 Jun 2011, In : Cells tissues organs. 194, 1, p. 60-66 7 p.

    Research output: Contribution to journalArticle

  373. β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis

    Gao, Y., Perkins, E. M., Clarkson, Y. L., Tobia, S., Lyndon, A. R., Jackson, M. & Rothstein, J. D., 2011, In : Journal of Neuroscience. 31, 46, p. 16581-90 10 p.

    Research output: Contribution to journalArticle

  374. 2010
  375. A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report

    Yamamoto-Watanabe, Y., Watanabe, M., Okamoto, K., Fujita, Y., Jackson, M., Ikeda, M., Nakazato, Y., Ikeda, Y., Matsubara, E., Kawarabayashi, T. & Shoji, M., 15 Sep 2010, In : Journal of the Neurological Sciences. 296, 1-2, p. 59-63 5 p.

    Research output: Contribution to journalArticle

  376. β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

    Clarkson, Y., Gillespie, T., Perkins, E. M., Lyndon, A. R. & Jackson, M., Sep 2010, In : Human Molecular Genetics. 19, 18, p. 3634-3641 8 p.

    Research output: Contribution to journalArticle

  377. 2009
  378. Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

    El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F. & Mighell, A. J., 13 Nov 2009, In : American Journal of Human Genetics. 85, 5, p. 699-705 7 p.

    Research output: Contribution to journalArticle

  379. Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

    Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., Murphy, A. L., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J. & 4 others, Mackey, D. A., Kalaydjieva, L., Riazuddin, S. & Inglehearn, C. F., 15 May 2009, In : American Journal of Human Genetics. 84, 5, p. 664-671 8 p.

    Research output: Contribution to journalArticle

  380. 2008
  381. A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI

    Watanabe, M., Monai, N., Jackson, M., Yamamoto-Watanabe, Y., Ikeda, Y., Suzuki, C., Tomiyama, M., Kawarabayashi, T., Kimura, T., Seino, Y., Wakasaya, Y., Miki, Y., Matsubara, E. & Shoji, M., 2008, In : Internal Medicine. 47, 24, p. 2179-2182 4 p.

    Research output: Contribution to journalArticle

  382. 2007
  383. FGF stimulation of the Erk1/2 signalling cascade triggers transition of pluripotent embryonic stem cells from self-renewal to lineage commitment

    Kunath, T., Saba-El-Leil, M. K., Almousailleakh, M., Wray, J., Meloche, S. & Smith, A., 1 Aug 2007, In : Development. 134, 16, p. 2895-2902 8 p.

    Research output: Contribution to journalArticle

  384. 2006
  385. Teratogenicity of antiepileptic drugs

    Breen, D. P. & Davenport, R. J., 23 Sep 2006, In : BMJ (Clinical research ed.). 333, 7569, p. 615-6 2 p.

    Research output: Contribution to journalArticle

  386. 2005
  387. Epidemiology, clinical characteristics, and management of adults referred to a teaching hospital first seizure clinic

    Breen, D. P., Dunn, M. J. G., Davenport, R. J. & Gray, A. J., Nov 2005, In : Postgraduate Medical Journal. 81, 961, p. 715-8 4 p.

    Research output: Contribution to journalArticle

  388. Early management of adults with an uncomplicated first generalised seizure

    Dunn, M. J. G., Breen, D. P., Davenport, R. J. & Gray, A. J., Apr 2005, In : Emergency Medicine Journal. 22, 4, p. 237-42 6 p.

    Research output: Contribution to journalReview article