Research Output per year
Personal profile
Research expertise keywords
- Molecular genetics
- Neurological disorders
- Neuromuscular disorders
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Research Output
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta Neuropathologica Communications. 8, 1, p. 18Research output: Contribution to journal › Article
Open Access
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm ) ameliorates disease in a murine model of McArdle disease
McNamara, E. L., Taylor, R. L., Clayton, J. S., Goullee, H., Dilworth, K. L., Pinós, T., Brull, A., Alexander, I. E., Lisowski, L., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 1 Jan 2020, In : Human Molecular Genetics. 29, 1, p. 20-30 11 p.Research output: Contribution to journal › Article
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., Kresoje, N., Ong, R., Duff, R. M., Cabrera-Serrano, M., Nowak, K. J., Pachter, N., Ravenscroft, G., Lamont, P. J., Davis, M. R. & Laing, N. G., 9 Mar 2020, In : Annals of Clinical and Translational Neurology.Research output: Contribution to journal › Article
Open Access
Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges
Bilkey, G. A., Burns, B. L., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., S. Dawkins, H. J., Nowak, K. J. & Weeramanthri, T. S., 11 Mar 2019, In : Frontiers in Public Health. 7, MAR, 40.Research output: Contribution to journal › Review article
Open Access
5
Citations
(Scopus)
Healthcare system priorities for successful integration of genomics: An Australian focus
Burns, B. L., Bilkey, G. A., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., Dawkins, H. J. S., Weeramanthri, T. S. & Nowak, K. J., 11 Mar 2019, In : Frontiers in Public Health. 7, 41.Research output: Contribution to journal › Review article
Open Access
3
Citations
(Scopus)
Projects
- 27 Finished
Improving myosin function to treat nemaline myopathy
A Foundation Building Strength Inc
1/01/18 → 31/12/19
Project: Research
Evaluating gene therapy for McArdle's disease using a mouse model
Laing, N., Nowak, K. & Taylor, R.
Muscular Dystrophy Association of America
1/02/17 → 31/07/18
Project: Research
ACTA1 Congenital Myopathies: Evaluating Viral and Gene Therapy
Nowak, K., Laing, N. & Ravenscroft, G.
Association Francaise contre les Myopathies (AFM)
16/04/15 → 15/04/17
Project: Research
Genetic Protection Against Ageing Muscles
Nowak, K., Morahan, G., Sinclair, D. & Gregorevic, P.
University of Western Australia
1/01/15 → 31/12/15
Project: Research