Centre for Research Excellence in Neuromuscular Disorders

  • Laing, Nigel (Investigator 01)
  • 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 date1/01/12 → 31/12/16

Funding

  • NHMRC National Health and Medical Research Council : 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 others, Ryan, 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 journal › Article › peer-review

    Open Access
    101 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 journal › Article › peer-review

    Open Access
    72 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 journal › Article › peer-review

    57 Citations (Scopus)
View all 5 research outputs