Centre for Research Excellence in Neuromuscular Disorders

  • Laing, Nigel (Chief Investigator)
  • North, Kathryn (Investigator 02)
  • Burns, Joshua (Investigator 03)
  • Ryan, Monique (Investigator 04)
  • Clarke, Nigel (Investigator 05)
  • Corbett, Alastair (Investigator 06)
  • Refshauge, Kathryn (Investigator 07)
  • Buckley, Michael (Investigator 08)
  • McLean, Catriona (Investigator 09)

Project Details

StatusFinished
Effective start/end date1/01/1231/12/16

Funding

  • National Health & Medical Research Council NHMRC: A$468,745.00
  • Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J., & 64 othersRyan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Toepf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H-M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E-J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Boennemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 2018, In: Annals of Neurology. 83, 6, p. 1105-1124 20 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    84 Citations (Scopus)
  • Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

    Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A. & O'Grady, G. L., 1 Dec 2017, In: Genome Medicine. 2, 1, 0006.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    66 Citations (Scopus)
  • Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

    O'Grady, G. L., Lek, M., Lamande, S. R., Waddell, L., Oates, E. C., Punetha, J., Ghaoui, R., Sandaradura, S. A., Best, H., Kaur, S., Davis, M., Laing, N. G., Muntoni, F., Hoffman, E., Macarthur, D. G., Clarke, N. F., Cooper, S. & North, K., 1 Jul 2016, In: Annals of Neurology. 80, 1, p. 101-111 11 p.

    Research output: Contribution to journalArticlepeer-review

    52 Citations (Scopus)