Research output per year
Research output per year
Personal profile
Research expertise keywords
- Molecular genetics
- Neurological disorders
- Neuromuscular disorders
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Dive into the research topics where Kristen Nowak is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
Clayton, J. S., Scriba, C. K., Romero, N. B., Malfatti, E., Saker, S., Larmonier, T., Nowak, K. J., Ravenscroft, G., Laing, N. G. & Taylor, R. L., May 2021, In : Stem Cell Research. 53, 102273.Research output: Contribution to journal › Article
Open Access -
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia
FH Australasia Network Consensus Working Group, Watts, G. F., Sullivan, D. R., Hare, D. L., Kostner, K. M., Horton, A. E., Bell, D. A., Brett, T., Trent, R. J., Poplawski, N. K., Martin, A. C., Srinivasan, S., Justo, R. N., Chow, C. K., Pang, J., Ademi, Z., Ardill, J. J., Barnett, W., Bates, T. R., Beilin, L. J. & 65 others, , Mar 2021, In : Heart Lung and Circulation. 30, 3, p. 324-349Research output: Contribution to journal › Article
Open Access4 Citations (Scopus) -
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 Access2 Citations (Scopus) -
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Clayton, J. S., McNamara, E. L., Goullee, H., Conijn, S., Muthsam, K., Musk, G. C., Coote, D., Kijas, J., Testa, A. C., Taylor, R. L., O'Hara, A. J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 20 Aug 2020, In : Acta Neuropathologica Communications. 8, 1, 1 p.Research 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
Open AccessFile3 Citations (Scopus)176 Downloads (Pure)
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Improving myosin function to treat nemaline myopathy
A Foundation Building Strength Inc
1/01/18 → 31/12/19
Project: Research
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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
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Evaluating Genetic Treatments for Nemaline Myopathy (NEM) Using Current and New Mouse Models
Nowak, K., Laing, N. & Ravenscroft, G.
A Foundation Building Strength Inc
1/01/15 → 31/12/16
Project: Research