Prof Stuart Pickering-BrownPhD

Professor of Neurogenetics

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Publications

  1. 2019
  2. Published

    Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Alzheimer Disease Genetics Consortium (ADGC), European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.

    Research output: Contribution to journalArticle

  3. 2018
  4. Published

    A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    International FTD-Genomics Consortium (IFGC), 1 Oct 2018, In : Brain. 141, 10, p. 2895-2907

    Research output: Contribution to journalArticle

  5. Published

    Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model

    Swaminathan, A., Bouffard, M., Liao, M., Ryan, S., Callister, J. B., Pickering-Brown, S. M., Armstrong, G. A. B. & Drapeau, P., 15 May 2018, In : Human Molecular Genetics. 27, 10, p. 1754-1762 9 p.

    Research output: Contribution to journalArticle

  6. Published

    Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

    ICALS, Jan 2018, In : The Lancet. Neurology. 17, 1, p. 64-74 11 p.

    Research output: Contribution to journalArticle

  7. Published

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    ITALSGEN Consortium, 2018, In : Neuron. 97, 6, p. 1268-1283.e6

    Research output: Contribution to journalArticle

  8. Published

    Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    International Frontotemporal Dementia Genomics Consortium, 2018, In : Nature Medicine.

    Research output: Contribution to journalArticle

  9. Published

    Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    International FTD-Genomics Consortium, 2018, In : PLOS Medicine. 15, 1, e1002487.

    Research output: Contribution to journalArticle

  10. Published

    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., 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., 2018, In : Journal of Neurology, Neurosurgery & Psychiatry. 89, 8, p. 813-816

    Research output: Contribution to journalArticle

  11. Published
  12. Published

    The role of lysosomes and autophagosomes in Frontotemporal Lobar Degeneration

    Bain, H. D., Davidson, Y. S., Robinson, A. C., Ryan, S., Rollinson, S., Richardson, A., Jones, M., Snowden, J. S., Pickering-Brown, S. & Mann, D. M. A., 2018, In : Neuropathology and Applied Neurobiology.

    Research output: Contribution to journalArticle

  13. 2017
  14. Published
  15. Published

    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-akanbi, M., Santibanez-koref, M., Talbot, K., Turner, M. R., Mckenzie, C., Troakes, C., Attems, J., Smith, C., Al Sarraj, S., Morris, C. M., Ansorge, O., Pickering-brown, S., Ironside, J. W. & 1 others, Chinnery, P. F., 1 Dec 2017, In : Acta Neuropathologica Communications. 5, 1

    Research output: Contribution to journalArticle

  16. Published

    Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

    Davidson, Y. S., Robinson, A. C., Flood, L., Rollinson, S., Benson, B. C., Asi, Y. T., Richardson, A., Jones, M., Snowden, J. S., Pickering-Brown, S., Lashley, T. & Mann, D. M. A., 30 Jun 2017, In : Acta Neuropathologica Communications. 5, 1, 12 p., 54.

    Research output: Contribution to journalArticle

  17. Published

    Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene

    Davidson, Y. S., Flood, L., Robinson, A. C., Nihei, Y., Mori, K., Rollinson, S., Richardson, A., Benson, B. C., Jones, M., Snowden, J. S., Pickering-Brown, S., Haass, C., Lashley, T. & Mann, D. M. A., 21 Apr 2017, In : Acta Neuropathologica Communications. 5, 1, p. 31

    Research output: Contribution to journalArticle

  18. Published

    Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

    Keogh, M. J., Wei, W., Wilson, I., Coxhead, J., Ryan, S., Rollinson, S., Griffin, H., Kurzawa-Akanbi, M., Santibanez-Koref, M., 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., Ironside, J. W. & 1 others, Chinnery, P. F., 1 Jan 2017, In : Genome research. 27, 1, p. 165-173 9 p.

    Research output: Contribution to journalArticle

  19. Published

    Immunohistochemical detection of C9orf72 protein in Frontotemporal Lobar Degeneration and Motor Neurone Disease: patterns of immunostaining and an evaluation of commercial antibodies

    Davidson, Y., Robinson, A., Rollinson, S., Pickering-Brown, S., Xiao, S., Robertson, J. & Mann, D., 2017, In : Amyotrophic lateral sclerosis and frontotemporal degeneration.

    Research output: Contribution to journalArticle

  20. 2016
  21. Published

    Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size

    Bennion Callister, J., Ryan, S., Sim, J., Rollinson, S. & Pickering-Brown, S., 23 Oct 2016, In : Human Molecular Genetics. 25

    Research output: Contribution to journalArticle

  22. Published

    Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis

    Rollinson, S., Young, K., Bennion-Callister, J. & Pickering-Brown, S., 4 Sep 2016, In : European Journal of Neuroscience. 44, 5, p. 2214-2225 12 p.

    Research output: Contribution to journalArticle

  23. Published

    Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation

    Luzzi, S., Girelli, F., Fiori, C., Ranaldi, V., Baldinelli, S., Cameriere, V., Silvestrini, M., Provinciali, L., Rollinson, S., Pickering-Brown, S., Mann, D. & Snowden, J. S., Jul 2016, In : Journal of neurology, neurosurgery, and psychiatry. 87, 7, p. 793-5 3 p.

    Research output: Contribution to journalArticle

  24. Published

    Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion

    Snowden, J. S., Harris, J., Adams, J., Thompson, J. C., Richardson, A. M., Jones, M. S., Neary, D., Davidson, Y. S., Robinson, A. C., Rollinson, S., Pickering-Brown, S. & Mann, D. M., May 2016, In : Journal of neurology, neurosurgery, and psychiatry. 87, 5, p. 562-563 2 p.

    Research output: Contribution to journalArticle

  25. Published

    Pathological tau deposition in Motor Neurone Disease and Frontotemporal Lobar Degeneration associated with TDP-43 proteinopathy

    Behrouzi, R., Liu, X., Wu, D., Robinson, A., Tanaguchi-Watanabe, S., Rollinson, S., Shi, J., Tian, J., Hamdallah, H. H., Ealing, J., Richardson, A., Jones, M., Pickering-Brown, S., Davidson, Y., Strong, M. J., Hasegawa, M., Snowden, J. & Mann, D., 31 Mar 2016, In : Acta Neuropathologica Communications. 4, 33.

    Research output: Contribution to journalArticle

  26. Published

    Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease

    Schott, J. M., Crutch, S. J., Carrasquillo, M. M., Uphill, J., Shakespeare, T. J., Ryan, N. S., Yong, K. X. X., Lehmann, M., Ertekin-Taner, N., Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Khan, Q. U. A., Petersen, R. C., Dickson, D. W., Knopman, D. S., Rabinovici, G. D., Miller, B. L., Gonzalez, A. S., Gil-Néciga, E. & 24 others, Snowden, J. S., Harris, J., Pickering-Brown, S. M., Louwersheimer, E., van der Flier, W. M., Scheltens, P., Pijnenburg, Y. A., Galasko, D., Sarazin, M., Dubois, B., Magnin, E., Galimberti, D., Scarpini, E., Cappa, S. F., Hodges, J. R., Halliday, G. M., Bartley, L., Carrillo, M. C., Bras, J. T., Hardy, J., Rossor, M. N., Collinge, J., Fox, N. C. & Mead, S., 15 Mar 2016, In : Alzheimer's and Dementia.

    Research output: Contribution to journalArticle

  27. Published

    Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

    Kun-Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C., Parkkinen, L., Darwent, L., Hernandez, D., Ansorge, O., Clark, L. N., Honig, L. S., Marder, K., Lemstra, A., Scheltens, P., van der Flier, W., Louwersheimer, E., Holstege, H., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H. & 44 others, Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Holton, J., Compta, Y., Van Deerlin, V., Trojanowski, J. Q., Serrano, G. E., Beach, T. G., Clarimon, J., Lleó, A., Morenas-Rodríguez, E., Lesage, S., Galasko, D., Masliah, E., Santana, I., Diez, M., Pastor, P., Tienari, P. J., Myllykangas, L., Oinas, M., Revesz, T., Lees, A., Boeve, B. F., Petersen, R. C., Ferman, T. J., Escott-Price, V., Graff-Radford, N., Cairns, N. J., Morris, J. C., Stone, D. J., Pickering-Brown, S., Mann, D., Dickson, D. W., Halliday, G. M., Singleton, A., Guerreiro, R. & Bras, J., 2016, In : Neurobiology of Aging.

    Research output: Contribution to journalArticle

  28. 2015
  29. Published

    Neurodegeneration in Frontotemporal Lobar Degeneration and Motor Neurone Disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

    Davidson, Y., Robinson, A. C., Liu, X., Wu, D., Troakes, C., Rollinson, S., Masuda-Suzukake, M., Suzuki, G., Nonaka, T., Shi, J., Tian, J., Hamdalla, H., Ealing, J., Richardson, A., Jones, M., Pickering-Brown, S., Snowden, J. S., Hasegawa, M. & Mann, D. M. A., 5 Nov 2015, In : Neuropathology and Applied Neurobiology.

    Research output: Contribution to journalArticle

  30. Published

    Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.

    Guerreiro, R., Escott-Price, V., Darwent, L., Parkkinen, L., Ansorge, O., Hernandez, D. G., Nalls, M. A., Clark, L., Honig, L., Marder, K., van der Flier, W., Holstege, H., Louwersheimer, E., Lemstra, A., Scheltens, P., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Ortega-Cubero, S. & 27 others, Pastor, P., Ferman, T. J., Graff-Radford, N. R., Ross, O. A., Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Compta, Y., Revesz, T., Lees, A., Cairns, N. J., Halliday, G. M., Mann, D., Pickering-Brown, S., Powell, J., Lunnon, K., Lupton, M. K., Dickson, D., Hardy, J., Singleton, A. & Bras, J., 2 Nov 2015, In : Neurobiology of Aging.

    Research output: Contribution to journalArticle

  31. Published

    Is SIGMAR1 a confirmed FTD/MND gene?

    Pickering-Brown, S. & Hardy, J., Nov 2015, In : Brain. 138, Pt 11, p. e393

    Research output: Contribution to journalArticle

  32. Published

    Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.

    Snowden, J. S., Adams, J., Harris, J., Thompson, J. C., Rollinson, S., Richardson, A., Jones, M., Neary, D., Mann, D. M. & Pickering-Brown, S., 16 Oct 2015, In : Amyotrophic lateral sclerosis & frontotemporal degeneration. 16, 7-8, p. 497-505 9 p.

    Research output: Contribution to journalArticle

  33. Published

    p62/SQSTM1 analysis in frontotemporal lobar degeneration.

    Miller, L., Rollinson, S., Pickering-Brown, S., Callister, J. B., Young, K., Harris, J., Gerhard, A., Neary, D., Richardson, A., Snowden, J. & Mann, D. M., 10 Oct 2015, In : Neurobiology of Aging. 36, 3, p. 1603

    Research output: Contribution to journalArticle

  34. Published

    Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

    Cooper-Knock, J., Higginbottom, A., Stopford, M. J., Highley, J. R., Ince, P. G., Wharton, S. B., Pickering-Brown, S., Kirby, J., Hautbergue, G. M. & Shaw, P. J., Jul 2015, In : Acta neuropathologica. 130, 1, p. 63-75 13 p.

    Research output: Contribution to journalArticle

  35. Published

    A novel Alzheimer disease locus located near the gene encoding tau protein.

    Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J-C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L-S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A. & 406 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S-H., Boland, A., Becker, T., Kukull, W. A., van der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J-F., Hampel, H., Kamboh, M. I., de Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., Cruchaga, C., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L-W., Karydas, A., Kauwe, J. S., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C-F., Lopez, O. L., Lyketsos, C. G., Mack, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Morris, J. C., Mukherjee, S., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Partch, A., Paulson, H. L., Perry, W., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reisch, J. S., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Wu, C-K., Yu, C-E., Yu, L., Au, R., Wolf, P. A., Beiser, A., Satizabal, C., Uitterlinden, A. G., Rivadeneira, F., Koudstaal, P. J., Longstreth Jr, W. T., Kuller, L. H., Lumley, T., Rice, K., Harris, T. B., Nalls, M., Marksteiner, J. J. M., Dal-Bianco, P., Töglhofer, A. M., Freudenberger, P., Ransmayr, G., Benke, T., Toeglhofer, A. M., Boerwinkle, E., Bressler, J., Fornage, M., Morón, F. J., Hernández, I., Roca, M. R., Mauleón, A., Alegret, M., Ramírez-Lorca, R., González-Perez, A., Alpérovitch, A., Alvarez, V., Barberger-Gateau, P., Bettens, K., Bossù, P., Brice, A., Bullido, M., Caffara, P., Clarimon, J., Combarros, O., Coto, E., Zampo, M. D., Delepine, M., Deniz Naranjo, M. C., Epelbaum, J., Fratiglioni, L., Galimberti, D., Graff, C., Hiltunen, M., Ingelsson, M., Keller, L., Lannfelt, L., Llèo, A., Mancuso, M., Mateo, I., Mecocci, P., Nacmias, B., Panza, F., Pilotto, A., Garcia, F. S., Scarpini, E., Seripa, D., Sleegers, K., Soininen, H., Sorbi, S., Spalletta, G., Wallon, D., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Psy, DC., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., Bussche, H. V. D., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Russo, G., Jöckel, K-H., Moebus, S., Klopp, N., Wichmann, H-E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., 17 Mar 2015, In : Molecular psychiatry.

    Research output: Contribution to journalArticle

  36. Published

    A UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.

    Ugwu, F., Rollinson, S., Harris, J., Gerhard, A., Richardson, A., Jones, M., Mann, D., Snowden, J. & Pickering-Brown, S., Jan 2015, In : Neurobiology of Aging. 36, 1

    Research output: Contribution to journalArticle

  37. Published

    TREM2 analysis and increased risk of Alzheimer's disease.

    Finelli, D., Rollinson, S., Harris, J., Jones, M., Richardson, A., Gerhard, A., Snowden, J., Mann, D. & Pickering-Brown, S., Jan 2015, In : Neurobiology of Aging. 36, 1

    Research output: Contribution to journalArticle

  38. Published

    Histone deacetylases (HDACs) in Frontotemporal Lobar Degeneration.

    Whitehouse, A., Doherty, K., Yeh, H. H., Robinson, A. C., Rollinson, S., Pickering-Brown, S., Snowden, J., Thompson, J. C., Davidson, Y. S. & Mann, D. M. A., 2015, In : Neuropathology and Applied Neurobiology. 41, 2, p. 245-57 187 p.

    Research output: Contribution to journalArticle

  39. Published

    Semantic corticobasal dementia: challenging nosology in frontotemporal lobar degeneration

    Luzzi, S., Fabi, K., Cafazzo, V., Fringuelli, F. M., Reverberi, C., Baldinelli, S., Silvestrini, M., Provinciali, L., Ascoli, G., Pickering-Brown, S., Mann, D., Neary, D. & Snowden, J. S., 2015, In : Alzheimer disease and associated disorders. 29, 4, p. 360-3 4 p.

    Research output: Contribution to journalArticle

  40. 2014
  41. Published

    A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

    Rollinson, S., Bennion Callister, J., Young, K., Ryan, S. J., Druyeh, R., Rohrer, J. D., Snowden, J., Richardson, A., Jones, M., Harris, J., Davidson, Y., Robinson, A., Ealing, J., Johnson, J. O., Traynor, B., Mead, S., Mann, D. & Pickering-Brown, S. M., 12 Dec 2014, In : Neurobiology of Aging. 36, 3, p. 1601.e1-1601.e5 5 p.

    Research output: Contribution to journalArticle

  42. Published

    Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

    Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., Hernandez, D. G., Nalls, M. A., Clark, L. N., Honig, L. S., Marder, K., Van Der Flier, W. M., Lemstra, A., Scheltens, P., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Ortega-Cubero, S., Pastor, P. & 22 others, Ferman, T. J., Graff-Radford, N. R., Ross, O. A., Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Compta, Y., Revesz, T., Lees, A., Cairns, N., Halliday, G. M., Mann, D., Pickering-Brown, S., Dickson, D. W., Singleton, A. & Hardy, J., 1 Dec 2014, In : Human Molecular Genetics. 23, 23

    Research output: Contribution to journalArticle

  43. Published

    Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

    Bennion Callister, J. & Pickering-Brown, S. M., Dec 2014, In : Experimental neurology. 262 Pt B

    Research output: Contribution to journalArticle

  44. Published

    Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration.

    Gibbons, L., Rollinson, S., Thompson, J. C., Robinson, A., Davidson, Y. S., Richardson, A., Neary, D., Pickering-Brown, S. M., Snowden, J. S. & Mann, D. M. A., 18 Oct 2014, In : Neurobiology of Aging. 36, 3

    Research output: Contribution to journalArticle

  45. Published

    Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

    Sassi, C., Guerreiro, R., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Medway, C., Lord, J., Turton, J., Mann, D., Snowden, J., Neary, D., Harris, J., Bras, J., Powell, J. F., Singleton, A., Hardy, J., Passmore, P. & 18 others, Craig, D., Johnston, J., McGuinness, B., Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Mann, D., Pickering-Brown, S., Brown, K., Lowe, J., Morgan, K., Smith, A. D., Wilcock, G., Warden, D. & Holmes, C., Oct 2014, In : Neurobiology of Aging. 35, 10, p. 2422e13-e16

    Research output: Contribution to journalArticle

  46. Published

    Patterns of microglial cell activation in frontotemporal lobar degeneration

    Lant, S. B., Robinson, A. C., Thompson, J. C., Rollinson, S., Pickering-Brown, S., Snowden, J. S., Davidson, Y. S., Gerhard, A. & Mann, D. M. A., Oct 2014, In : Neuropathology and Applied Neurobiology. 40, 6, p. 686-696 10 p.

    Research output: Contribution to journalArticle

  47. Published

    C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.

    Mizielinska, S., Grönke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., Moens, T., Norona, F. E., Woollacott, I. O. C., Pietrzyk, J., Cleverley, K., Nicoll, A. J., Pickering-Brown, S., Dols, J., Cabecinha, M., Hendrich, O., Fratta, P., Fisher, E. M. C., Partridge, L. & Isaacs, A. M., 5 Sep 2014, In : Science (New York, N.Y.). 345, 6201

    Research output: Contribution to journalArticle

  48. Published

    Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.

    Baborie, A., Griffiths, T. D., Jaros, E., Perry, R., McKeith, I. G., Burn, D. J., Masuda-Suzukake, M., Hasegawa, M., Rollinson, S., Pickering-Brown, S., Robinson, A. C., Davidson, Y. S. & Mann, D. M. A., 3 Sep 2014, In : Neuropathology and Applied Neurobiology. 41, 5

    Research output: Contribution to journalArticle

  49. Published

    Frontotemporal dementia and its subtypes: a genome-wide association study.

    Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A. & 138 others, Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G-Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Deschamps, W., Van Langenhove, T., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H-H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Jul 2014, In : The Lancet. Neurology. 13, 7, p. 686-699 13 p.

    Research output: Contribution to journalArticle

  50. Published

    Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

    Davidson, Y. S., Barker, H., Robinson, A. C., Thompson, J. C., Harris, J., Troakes, C., Smith, B., Al-Saraj, S., Shaw, C., Rollinson, S., Masuda-Suzukake, M., Hasegawa, M., Pickering-Brown, S., Snowden, J. S. & Mann, D. M., 20 Jun 2014, In : Acta Neuropathologica Communications. 2, 70, p. 70-70 1 p.

    Research output: Contribution to journalArticle

  51. Published

    No interaction between tau and TDP-43 pathologies in either Frontotemporal Lobar Degeneration or Motor Neurone Disease.

    Robinson, A. C., Thompson, J. C., Weedon, L., Rollinson, S., Pickering-Brown, S., Snowden, J. S., Davidson, Y. S. & Mann, D. M. A., 27 May 2014, In : Neuropathology and Applied Neurobiology. 40, 7, p. 844-854 10 p.

    Research output: Contribution to journalArticle

  52. Published

    Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.

    Mok, K. Y., Schneider, S. A., Trabzuni, D., Stamelou, M., Edwards, M., Kasperaviciute, D., Pickering-Brown, S., Silverdale, M., Hardy, J. & Bhatia, K. P., Feb 2014, In : Movement disorders : official journal of the Movement Disorder Society. 29, 2

    Research output: Contribution to journalArticle

  53. Published

    Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

    Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., Jeng, A. T., Cooper, B., Skorupa, T., Carrell, D., Levitch, D., Hsu, S., Choi, J., Ryten, M., Hardy, J., Trabzuni, D. & 60 others, Weale, M. E., Ramasamy, A., Smith, C., Sassi, C., Bras, J., Gibbs, J. R., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., Demirci, F. Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Passmore, P., Craig, D., Johnston, J., McGuinness, B., Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Mann, D. M., Pickering-Brown, S., Kalsheker, N., Lowe, J., Morgan, K., David Smith, A., Wilcock, G., Warden, D., Holmes, C., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Rogaeva, E., Singleton, A. B., Kamboh, M. I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K. & Goate, A. M., 23 Jan 2014, In : Nature. 505, 7484, p. 550-554 4 p.

    Research output: Contribution to journalArticle

  54. Published

    Pathogenesis/Genetics of frontotemporal lobar degeneration and how it relates to ALS

    Callister, J. B. & Pickering-Brown, S., 2014, In : Experimental Neurobiology. 262, p. 84 - 90 6 p.

    Research output: Contribution to journalArticle

  55. 2013
  56. Published

    A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

    Nalls, M. A., Duran, R., Lopez, G., Kurzawa-Akanbi, M., McKeith, I. G., Chinnery, P. F., Morris, C. M., Theuns, J., Crosiers, D., Cras, P., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Mann, D. M. A., Snowden, J., Pickering-Brown, S., Halliwell, N., Davidson, Y., Gibbons, L., Harris, J. & 38 others, Sheerin, U-M., Bras, J., Hardy, J., Clark, L., Marder, K., Honig, L. S., Berg, D., Maetzler, W., Brockmann, K., Gasser, T., Novellino, F., Quattrone, A., Annesi, G., De Marco, E. V., Rogaeva, E., Masellis, M., Black, S. E., Bilbao, J. M., Foroud, T., Ghetti, B., Nichols, W. C., Pankratz, N., Halliday, G., Lesage, S., Klebe, S., Durr, A., Duyckaerts, C., Brice, A., Giasson, B. I., Trojanowski, J. Q., Hurtig, H. I., Tayebi, N., Landazabal, C., Knight, M. A., Keller, M., Singleton, A. B., Wolfsberg, T. G. & Sidransky, E., Jun 2013, In : JAMA Neurology. 70, 6, p. 727-35 691 p.

    Research output: Contribution to journalArticle

  57. Published

    Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

    Mann, D. M. A., Rollinson, S., Robinson, A., Bennion Callister, J., Thompson, J. C., Snowden, J. S., Gendron, T., Petrucelli, L., Masuda-Suzukake, M., Hasegawa, M., Davidson, Y. & Pickering-Brown, S., 2013, In : Acta Neuropathologica Communications. 1, 1

    Research output: Contribution to journalArticle

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