Search results

• 2021

  A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

  Gotkine, M., de Majo, M., Wong, C. H., Topp, S. D., Michaelson-Cohen, R., Epsztejn-Litman, S., Eiges, R., Y, Y. L., Kanaan, M., Shaked, H. M., Alahmady, N., Vance, C., Newhouse, S. J., Breen, G., Nishimura, A. L., Shaw, C. E. & Smith, B. N., Oct 2021, In: Neurobiology of Aging. 106, p. 351.e1-351.e6

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

  • Heterozygote 100%
  • Genetic Carrier 100%
  • Nonsense-Mediated Decay 100%
  • Optineurin 100%
  • Protein 50%
  4 Citations (Scopus)
• 2018

  ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

  de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H.-J., Soragia-Gkazi, A., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E. & Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown Jr., R. H., Silani, V., Landers, J. E. & Shaw, C. E., 1 Nov 2018, In: Neurobiology of Aging. 71, 0, p. 266.e1-266.e10

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

  Open Access

  File

  • Missense 100%
  • Phosphorylation 66%
  • Protein 33%
  • Homodimerization 33%
  • Exome 33%
  63 Citations (Scopus)

  352 Downloads (Pure)
• 2017

  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, 16 p., eaad9157.

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

  Open Access

  File

  • Exome 100%
  • Lipocortin 100%
  • Protein 50%
  • Haplotype 50%
  • N-Terminus 50%
  120 Citations (Scopus)

  528 Downloads (Pure)
• 2016

  C9ORF72 and UBQLN2 are genetic causes of ALS in New Zealand: A genetic and pathological study using banked human brain tissue

  Scotter, E. L., Smyth, L., Bailey, J. W. T., Wong, C. H., de Majo, M., Vance, C. A., Synek, B. J., Turner, C., Pereira, J., Charleston, A., Waldvogel, H. J., Curtis, M. A., Dragunow, M., Shaw, C. E., Smith, B. N. & Faull, R. L. M., 5 Jul 2016, (E-pub ahead of print) In: Neurobiology of Aging.

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

  Open Access

  File

  • Genetics 100%
  • UBQLN2 100%
  • Brain 100%
  • Transactive Response Dna Binding Protein-43 75%
  • Protein 25%
  17 Citations (Scopus)

  358 Downloads (Pure)
• 2015

  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 journal › Article › peer-review

  • Frontotemporal Dementia 100%
  20 Citations (Scopus)