King's College London

Research portal

Dr Safa Al-Sarraj

  1. Distribution patterns of tau pathology in progressive supranuclear palsy

    Kovacs, G. G., Lukic, M. J., Irwin, D. J., Arzberger, T., Respondek, G., Lee, E. B., Coughlin, D., Giese, A., Grossman, M., Kurz, C., McMillan, C. T., Gelpi, E., Compta, Y., van Swieten, J. C., Laat, L. D., Troakes, C., Al-Sarraj, S., Robinson, J. L., Roeber, S., Xie, S. X. & 3 others, Lee, V. M. Y., Trojanowski, J. Q. & Höglinger, G. U., 1 Aug 2020, In : Acta Neuropathologica. 140, 2, p. 99-119 21 p.

    Research output: Contribution to journalArticle

  2. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

    Orme, T., Hernandez, D., Ross, O. A., Kun-Rodrigues, C., Darwent, L., Shepherd, C. E., Parkkinen, L., Ansorge, O., Clark, L., Honig, L. S., Marder, K., Lemstra, A., Rogaeva, E., St. George-Hyslop, P., Londos, E., Zetterberg, H., Morgan, K., Troakes, C., Al-Sarraj, S., Lashley, T. & 32 others, Holton, J., Compta, Y., Van Deerlin, V., Trojanowski, J. Q., Serrano, G. E., Beach, T. G., Lesage, S., Galasko, D., Masliah, E., Santana, I., 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., Pickering-Brown, S., Mann, D., Halliday, G., Stone, D. J., Dickson, D. W., Hardy, J., Singleton, A., Guerreiro, R. & Bras, J., 29 Jan 2020, In : Acta Neuropathologica Communications. 8, 1, 5.

    Research output: Contribution to journalArticle

  3. ATRX immunohistochemistry can help refine ‘not elsewhere classified’ categorisation for grade II/III gliomas

    Burford, C., Laxton, R., Sidhu, Z., Aizpurua, M., King, A., Bodi, I., Ashkan, K. & Al-Sarraj, S., 3 Sep 2019, In : British Journal of Neurosurgery. 33, 5, p. 536-540 5 p.

    Research output: Contribution to journalArticle

  4. Heritability and genetic variance of dementia with Lewy bodies

    for the International Parkinson's Disease Genomics Consortium, 1 Jul 2019, In : Neurobiology of disease. 127, p. 492-501 10 p.

    Research output: Contribution to journalArticle

  5. Parallel profiling of DNA methylation and hydroxymethylation highlights neuropathology-associated epigenetic variation in Alzheimer's disease

    Smith, A. R., Smith, R. G., Pishva, E., Hannon, E., Roubroeks, J. A. Y., Burrage, J., Troakes, C., Al-Sarraj, S., Sloan, C., Mill, J., Van Den Hove, D. L. & Lunnon, K., 21 Mar 2019, In : Clinical Epigenetics. 11, 1, 52.

    Research output: Contribution to journalArticle

  6. Comparison of clinical and neuropathological diagnoses of neurodegenerative diseases in two centres from the Brains for Dementia Research (BDR) cohort

    Selvackadunco, S., Langford, K., Shah, Z., Hurley, S., Bodi, I., King, A., Aarsland, D., Troakes, C. & Al-Sarraj, S., 14 Mar 2019, In : Journal of Neural Transmission. 126, 3, p. 327-337 11 p.

    Research output: Contribution to journalArticle

  7. A histone acetylome-wide association study of Alzheimer’s disease identifies disease-associated H3K27ac differences in the entorhinal cortex

    Marzi, S. J., Leung, S. K., Ribarska, T., Hannon, E., Smith, A. R., Pishva, E., Poschmann, J., Moore, K., Troakes, C., Al-Sarraj, S., Beck, S., Newman, S., Lunnon, K., Schalkwyk, L. C. & Mill, J., 1 Nov 2018, In : Nature Neuroscience. 21, 11, p. 1618-1627 10 p.

    Research output: Contribution to journalArticle

  8. A cross-brain-regions study of ANK1 DNA methylation in different neurodegenerative diseases

    Smith, A. R., Smith, R. G., Burrage, J., Troakes, C., Al-Sarraj, S., Kalaria, R. N., Sloan, C., Robinson, A. C., Mill, J. & Lunnon, K., 13 Oct 2018, In : Neurobiology of Aging. 74, p. 70-76

    Research output: Contribution to journalArticle

  9. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: Critical influence of CSF1R and NOTCH3

    Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, J. R., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Lord, J., Turton, J., Bras, J., Blumenau, S., Thielke, M., Josties, C., Freyer, D., Dietrich, A., Hammer, M., Baier, M. & 10 others, Dirnagl, U., Morgan, K., Powell, J. F., Kauwe, J. S., Cruchaga, C., Goate, A. M., Singleton, A. B., Guerreiro, R., Hodges, A. & Hardy, J., Jun 2018, In : Neurobiology of Aging. p. 179.e17-179.e29

    Research output: Contribution to journalArticle

  10. Accepted/In press

    Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: A genome-wide association study

    Pottier, C., Zhou, X., Perkerson III, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. A. & 39 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E., Glass, J., Pickering-Brown, S., Troakes, C., Al-Sarraj, S. & Cairns, N. J., 30 Apr 2018, (Accepted/In press) In : Lancet Neurology.

    Research output: Contribution to journalArticle

  11. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., Murphy, N. A., van Vugt, J. J. F. A., Geiger, J. T., van der Spek, R., Pliner, H. A., [Unknown], S., Smith, B. N., Marangi, G. & 38 others, Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Borghero, G., Murru, M. R., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Fratta, P., Fogh, I., Al-Sarraj, S., Troakes, C., Vance, C., Shatunov, A., Al-Chalabi, A., Iacoangeli, A., Newhouse, S., Shaw, C., Sproviero, W., Shaw, C. E., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium & Al Khleifat, A., 21 Mar 2018, In : Neuron. 97, 6, p. 1268 1 p.

    Research output: Contribution to journalArticle

  12. Elevated DNA methylation across a 48-kb region spanning the HOXA gene cluster is associated with Alzheimer's disease neuropathology

    Smith, R. G., Hannon, E., De Jager, P. L., Chibnik, L., Lott, S. J., Condliffe, D., Smith, A. R., Haroutunian, V., Troakes, C., Al-Sarraj, S., Bennett, D. A., Powell, J., Lovestone, S., Schalkwyk, L., Mill, J. & Lunnon, K., 15 Mar 2018, In : Alzheimer's & Dementia.

    Research output: Contribution to journalArticle

  13. 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 and Psychiatry. 89, p. 813-816

    Research output: Contribution to journalArticle

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

    Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D. G., Orme, T., Eicher, J. D., Shepherd, C. E., Parkkinen, L., Darwent, L., Heckman, M. G., Scholz, S. W., Troncoso, J. C., Pletnikova, O., Ansorge, O., Clarimon, J., Lleo, A., Morenas-Rodriguez, E., Clark, L., Honig, L. S., Marder, K. & 45 others, Lemstra, A., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Barber, I., Braae, A., Brown, K., Morgan, K., Troakes, C., Al-Sarraj, S., Lashley, T., Holton, J., Compta, Y., Van Deerlin, V., Serrano, G. E., Beach, T. G., Lesage, S., Galasko, D., Masliah, E., Santana, I., Pastor, P., Diez-Fairen, M., Aguilar, M., 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., Pickering-Brown, S., Mann, D., Halliday, G. M., Hardy, J., Trojanowski, J. Q., Dickson, D. W., Singleton, A., Stone, D. J. & Bras, J., Jan 2018, In : Lancet Neurology. 17, 1, p. 64-74 11 p.

    Research output: Contribution to journalArticle

  15. 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., 2 Dec 2017, In : Acta Neuropathologica Communications. 5, 1

    Research output: Contribution to journalArticle

  16. Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain

    Trist, B. G., Davies, K. M., Cottam, V., Genoud, S., Ortega, R., Roudeau, S., Carmona, A., de Silva, K., Wasinger, V., Lewis, S. J. G., Sachdev, P., Smith, B., Troakes, C., Vance, C., Shaw, C., Al-Sarraj, S., Ball, H. J., Halliday, G. M., Hare, D. J. & Double, K. L., 19 May 2017, In : Acta Neuropathologica. p. 1-15 15 p.

    Research output: Contribution to journalArticle

  17. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., Scotter, E. L. & 36 others, Parkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., Ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., De Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 3 May 2017, In : Science Translational Medicine. 9, 388

    Research output: Contribution to journalArticle

  18. Cavernoma: New insights from an unusual case

    Sokratous, G., Ughratdar, I., Selway, R., Al-Sarraj, S. & Ashkan, K., 2 Apr 2017, In : World Neurosurgery.

    Research output: Contribution to journalArticle

  19. 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

  20. 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., Morris, J. C., Stone, D., Pickering-Brown, S., Mann, D., Dickson, D. W., Halliday, G. M., Singleton, A., Guerreiro, R. & Bras, J., Jan 2017, In : Neurobiology of Aging. 49, p. 214.e13–214.e15

    Research output: Contribution to journalArticle

  21. Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

    Brady, S., Healy, E. G., Gang, Q., Parton, M., Quinlivan, R., Jacob, S., Curtis, E., Al-Sarraj, S., Sewry, C. A., Hanna, M. G., Houlden, H., Beeson, D. & Holton, J. L., 1 Dec 2016, In : Journal of Neuropathology and Experimental Neurology. 75, 12, p. 1171-1178 8 p.

    Research output: Contribution to journalArticle

  22. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Kenna, K. P., van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., van Rheenen, W., van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B. N., van Es, M. A., Topp, S. D., Kenna, A., Miller, J. W., Fallini, C., Tiloca, C., McLaughlin, R. L. & 31 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., de Belleroche, J., Baas, F., van der Kooi, A. J., de Visser, M., Ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, G. A., Turner, M. R., Glass, J. D., Al-Chalabi, A., Shaw, C. E. & SLAGEN Consortium, 1 Sep 2016, In : Nature Genetics. 48, 9, p. 1037-42 6 p.

    Research output: Contribution to journalLetter

  23. The pathology of traumatic brain injury (TBI): a practical approach

    Al-Sarraj, S., 1 Sep 2016, In : Diagnostic Histopathology. 22, 9, p. 318-326 9 p.

    Research output: Contribution to journalArticle

  24. Erratum to: Variation in 5-hydroxymethylcytosine across human cortex and cerebellum [Genome Biol. 2016, 17, 27]

    Lunnon, K., Hannon, E., G.Smith, R., Dempster, E., Wong, C., Burrage, J., Troakes, C., Al-Sarraj, S., Kepa, A., Schalkwyk, L. & Mill, J., 17 Jun 2016, In : Genome Biology. 17, 1, 131.

    Research output: Contribution to journalArticle

  25. Influence of coding variability in APP-Aβ metabolism genes in sporadic Alzheimer's disease

    Sassi, C., Ridge, P. G., Nalls, M. A., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Lord, J., Turton, J., Morgan, K., Powell, J. F., Kauwe, J. S., Cruchaga, C., Bras, J., Goate, A. M., Singleton, A. B. & 18 others, Guerreiro, R., Hardy, J., 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., Lowe, J., David Smith, A., Wilcock, G., Warden, D. & Holmes, C., 1 Jun 2016, In : PL o S One . 11, 6, e0150079.

    Research output: Contribution to journalArticle

  26. ABCA7 p.G215S as potential protective factor for Alzheimer’s disease

    Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Clement, N., Lord, J., Turton, J., Bras, J., Almeida, M. R., Passmore, P., Craig, D., Johnston, J., McGuinness, B. & 30 others, Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Vardy, E. R. L. C., Hooper, N. M., Mann, D. M., Pickering-Brown, S., Brown, K., Lowe, J., Morgan, K., Smith, A. D., Wilcock, G., Warden, D., Holmes, C., Holstege, H., Louwersheimer, E., van der Flier, W., Scheltens, P., Van Swieten, J. C., Santana, I., Oliveira, C., Morgan, K., Powell, J. F., Kauwe, J. S., Cruchaga, C., Goate, A. M., Singleton, A. B., Guerreiro, R. & Hardy, J., 20 Apr 2016, In : Neurobiology of Aging.

    Research output: Contribution to journalArticle

  27. Spinal meningiomata: what lessons can be learned after long-term (>10 years) follow-up: Proceedings of the 2016 BritSpine Biennial Scientific Congress of the United Kingdom Spine Societies

    Demetriades, A. K., Shapey, J., Al-Sarraj, S., Bhangoo, R., Thomas, N. & Gullan, R., Apr 2016, In : The spine journal. 16, 4, Supplement, p. S70-S71

    Research output: Contribution to journalArticle

  28. Variation in 5-hydroxymethylcytosine across human cortex and cerebellum

    Lunnon, K., Hannon, E., Smith, R. G., Dempster, E., Wong, C., Burrage, J., Troakes, C., Al-Sarraj, S., Kepa, A., Schalkwyk, L. & Mill, J., 16 Feb 2016, In : Genome Biology. 17, 1, p. 1/14 14 p., 27.

    Research output: Contribution to journalArticle

  29. 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., 1 Feb 2016, In : Neurobiology of Aging. 38, p. 214.e7–214.e10

    Research output: Contribution to journalArticle

  30. A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue—applications for studies of mitochondrial genetics in brain disorders

    Devall, M., Burrage, J., Caswell, R., Johnson, M., Troakes, C., Al-Sarraj, S., Jeffries, A. R., Mill, J. & Lunnon, K., 7 Dec 2015, In : Biotechniques. 59, 4, p. 241-247 7 p.

    Research output: Contribution to journalArticle

  31. The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

    Wong, C. H., Topp, S., Gkazi, A. S., Troakes, C., Miller, J. W., de Majo, M., Kirby, J., Shaw, P. J., Morrison, K. E., de Belleroche, J., Vance, C. A., Al-Chalabi, A., Al-Sarraj, S., Shaw, C. E. & Smith, B. N., 1 Oct 2015, In : Neurobiology of Aging. 36, 10, p. 2908.e17-2908.e18 2 p.

    Research output: Contribution to journalArticle

  32. BrainNet Europe’s Code of Conduct for brain banking

    Klioueva, N. M., Rademaker, M. C., Dexter, D. T., Al-Sarraj, S., Seilhean, D., Streichenberger, N., Schmitz, P., Bell, J. E., Ironside, J. W., Arzberger, T. & Huitinga, I., 23 Jul 2015, In : Journal of neural transmission (Vienna, Austria : 1996). 122, 7, p. 937-940 4 p.

    Research output: Contribution to journalArticle

  33. Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer’s disease progression: CX3CL1, TREM2, and PPARγ

    Strobel, S., Grünblatt, E., Riederer, P., Heinsen, H., Arzberger, T., Al-Sarraj, S., Troakes, C., Ferrer, I. & Monoranu, C. M., 23 Jul 2015, In : Journal of neural transmission (Vienna, Austria : 1996). 122, 7, p. 1069-1076 8 p.

    Research output: Contribution to journalArticle

  34. Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium

    Alafuzoff, I., Pikkarainen, M., Neumann, M., Arzberger, T., Al-Sarraj, S., Bodi, I., Bogdanovic, N., Bugiani, O., Ferrer, I., Gelpi, E., Gentleman, S., Giaccone, G., Graeber, M. B., Hortobagyi, T., Ince, P. G., Ironside, J. W., Kavantzas, N., King, A., Korkolopoulou, P., Kovács, G. G. & 13 others, Meyronet, D., Monoranu, C., Nilsson, T., Parchi, P., Patsouris, E., Revesz, T., Roggendorf, W., Rozemuller, A., Seilhean, D., Streichenberger, N., Thal, D. R., Wharton, S. B. & Kretzschmar, H., 23 Jul 2015, In : Journal of Neural Transmission. 122, 7, p. 957-972 16 p.

    Research output: Contribution to journalArticle

  35. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

    Smith, B. N., Vance, C., Scotter, E. L., Troakes, C., Wong, C. H., Topp, S., Maekawa, S., King, A., Mitchell, J. C., Lund, K., Al-Chalabi, A., Ticozzi, N., Silani, V., Sapp, P., Brown, R. H., Landers, J. E., Al-Sarraj, S. & Shaw, C. E., Mar 2015, In : Neurobiology of Aging. 36, 3, p. 1602.e17-1602.e27 11 p.

    Research output: Contribution to journalArticle

  36. Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

    Jones, A. R., Troakes, C., King, A., Sahni, V., De Jong, S., Bossers, K., Papouli, E., Mirza, M., Al-Sarraj, S., Shaw, C. E., Shaw, P. J., Kirby, J., Veldink, J. H., Macklis, J. D., Powell, J. F. & Al-Chalabi, A., 19 Feb 2015, In : Neurobiology of Aging. p. 2006.e1-2006.e9 9 p.

    Research output: Contribution to journalArticle

  37. 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, p. 6139-6146 8 p.

    Research output: Contribution to journalArticle

  38. LRRK2 exonic variants and risk of multiple system atrophy

    Heckman, M. G., Schottlaender, L., Soto-Ortolaza, A. I., Diehl, N. N., Rayaprolu, S., Ogaki, K., Fujioka, S., Murray, M. E., Cheshire, W. P., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., Sailer, A., Singleton, A. B., Chinnery, P. F., Keogh, M. J., Gentleman, S. M., Holton, J. L., Aoife, K., Mann, D. M. A. & 5 others, Al-Sarraj, S., Troakes, C., Dickson, D. W., Houlden, H. & Ross, O. A., 1 Dec 2014, In : Neurology. 83, 24, p. 2256-2261 6 p.

    Research output: Contribution to journalArticle

  39. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

    Sassi, C., Guerreiro, R., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Al-Sarraj, S., Niblock, M., Gallo, J. M., Adnan, J., Killick, R., Brown, K. S., Medway, C., Lord, J., Turton, J., Bras, J., Morgan, K., Powell, J. F., Singleton, A. & Hardy, J., Dec 2014, In : Neurobiology of Aging. 35, 12, p. 2881.e1-2881.e6 6 p.

    Research output: Contribution to journalArticle

  40. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

    Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W., Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C., Pensato, V. & 31 others, Castellotti, B., de Belleroche, J., Baas, F., Ten Asbroek, A. L., Sapp, P. C., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Muñoz-Blanco, J. L., Simpson, M., van Rheenen, W., Diekstra, F. P., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Morrison, K. E., Williams, K. L., Nicholson, G. A., Blair, I. P., Dion, P. A., Leblond, C. S., Rouleau, G. A., Hardiman, O., Al-Chalabi, A., Shaw, C. E. & SLAGEN Consortium, 22 Oct 2014, In : Neuron. 84, 2, p. 324-331 8 p.

    Research output: Contribution to journalArticle

  41. 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., Brown, K. S., Medway, C., Lord, J., Turton, J., Mann, D., Snowden, J., Neary, D., Harris, J., Bras, J., Morgan, K., Powell, J. F., Singleton, A. & 2 others, Hardy, J. & ARUK Consortium, Oct 2014, In : Neurobiology of Aging. 35, 10, 4 p., 2422.e13-2422.e16.

    Research output: Contribution to journalArticle

  42. Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease

    Lunnon, K., Smith, R., Hannon, E., De Jager, P. L., Srivastava, G., Volta, M., Troakes, C., Al-Sarraj, S., Burrage, J., Macdonald, R., Condliffe, D., Harries, L. W., Katsel, P., Haroutunian, V., Kaminsky, Z., Joachim, C., Powell, J., Lovestone, S., Bennett, D. A., Schalkwyk, L. C. & 1 others, Mill, J., Sep 2014, In : Nature Neuroscience. 17, 9, p. 1164-1170 7 p.

    Research output: Contribution to journalArticle

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