Search results

• 2013

  The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

  Smith, B. N., Newhouse, S., Shatunov, A., Vance, C., Topp, S., Johnson, L., Miller, J., Lee, Y., Troakes, C., Scott, K. M., Jones, A., Gray, I., Wright, J., Hortobágyi, T., Al-Sarraj, S., Rogelj, B., Powell, J., Lupton, M., Lovestone, S. & Sapp, P. C. & 26 others, Weber, M., Nestor, P. J., Schelhaas, H. J., Asbroek, A. A. T., Silani, V., Gellera, C., Taroni, F., Ticozzi, N., Van den Berg, L., Veldink, J., Van Damme, P., Robberecht, W., Shaw, P. J., Kirby, J., Pall, H., Morrison, K. E., Morris, A., de Belleroche, J., Vianney de Jong, J. M. B., Baas, F., Andersen, P. M., Landers, J., Brown, R. H., Weale, M. E., Al-Chalabi, A. & Shaw, C. E., Jan 2013, In: European Journal of Human Genetics. 21, 1, p. 102-108 7 p., N/A.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Haplotype 100%
  • Frontotemporal Dementia 100%
  • FUS 25%
  • Single-Nucleotide Polymorphism 25%
  • TARDBP 25%
  193 Citations (Scopus)
• 2012

  An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

  Troakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Siklos, L., Bell, C., Smith, B., Newhouse, S., Vance, C., Johnson, L., Hortobagyi, T., Shatunov, A., Al-Chalabi, A., Leigh, N., Shaw, C. E., King, A. & Al-Sarraj, S., Oct 2012, In: Neuropathology. 32, 5, p. 505-514 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Cerebellum 100%
  • Cerebral Cortex 100%
  • Hippocampus 100%
  • Frontotemporal Dementia 33%
  • Dementia 22%
  109 Citations (Scopus)

• Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

  Johnson, L., Miller, J. W., Gkazi, A. S., Vance, C., Topp, S. D., Newhouse, S. J., Al-Chalabi, A., Smith, B. N. & Shaw, C. E., Dec 2012, In: Neurobiology of Aging. 33, 12, p. - 3 p., 2948.e15.

  Research output: Contribution to journal › Article › peer-review

  • Optineurin 100%
  • Gene 60%
  • Single-Nucleotide Polymorphism 20%
  • Genetic Divergence 20%
  • Open-Angle Glaucoma 12%
  17 Citations (Scopus)
• 2010

  Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

  Shatunov, A., Mok, K., Newhouse, S., Weale, M. E., Smith, B., Vance, C., Johnson, L., Veldink, J. H., van Es, M. A., van den Berg, L. H., Robberecht, W., Van Damme, P., Hardiman, O., Farmer, A. E., Lewis, C. M., Butler, A. W., Abel, O., Andersen, P. M., Fogh, I. & Silani, V. & 17 others, Chiò, A., Traynor, B. J., Melki, J., Meininger, V., Landers, J. E., McGuffin, P., Glass, J. D., Pall, H., Leigh, P. N., Hardy, J., Brown, R. H., Powell, J. F., Orrell, R. W., Morrison, K. E., Shaw, P. J., Shaw, C. E. & Al-Chalabi, A., Oct 2010, In: Lancet Neurology. 9, 10, p. 986-94 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Single-Nucleotide Polymorphism 100%
  • Case-Control Study 100%
  • Genome Wide Association Study 100%
  • Gene Linkage 100%
  • Genotyping 50%
  182 Citations (Scopus)

  184 Downloads (Pure)