• The University of Western Australia (M510), 35 Stirling Highway,

    6009 Perth

    Australia

  • 2515 Citations
  • 27 h-Index
19972019
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Research Output 1997 2018

2018

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 21 Feb 2018, In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Clinical Utility Gene Card for autosomal dominant myotonia congenita (Thomsen Disease)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 1 Jul 2018, In : European Journal of Human Genetics. 26, 7, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

Open Access

Clinical utility gene card for McArdle disease

Taylor, R. L., Davis, M., Turner, E., Brull, A., Pinos, T., Cabrera, M. & Nowak, K. J., 1 May 2018, In : European Journal of Human Genetics. p. 758-764 7 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type V
Genetic Databases
Genes
Names
Glycogen Storage Disease

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 12 Jan 2018, In : European Journal of Human Genetics. p. 1-9 9 p.

Research output: Contribution to journalArticle

1 Citations

Incidental inequity

Nowak, K. J., Bauskis, A., Dawkins, H. J. & Baynam, G., 1 May 2018, In : European Journal of Human Genetics. 26, 5, p. 616-617 2 p.

Research output: Contribution to journalLetter

Open Access

Myostatin inhibition using mrk35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

Tinklenberg, J. A., Siebers, E. M., Beatka, M. J., Meng, H., Yang, L., Zhang, Z., Ross, J. A., Ochala, J., Morris, C., Owens, J. M., Laing, N. G., Nowak, K. J. & Lawlor, M. W., 15 Feb 2018, In : Human Molecular Genetics. 27, 4, p. 638-648 11 p., ddx431

Research output: Contribution to journalArticle

Nemaline Myopathies
Myostatin
Skeletal Muscle
Forelimb
Muscle Strength

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future

Molster, C. M., Bowman, F. L., Bilkey, G. A., Cho, A. S., Burns, B. L., Nowak, K. & Dawkins, H. J. S., 4 Sep 2018, In : Frontiers in Public Health. 6, 11 p., 247

Research output: Contribution to journalReview article

Open Access
2017
Open Access
File
Gene Regulatory Networks
Atrial Fibrillation
Myocardium
Gene Expression
Lung

The contractile phenotype of a novel dystrophin-negative mouse strain with enhanced voluntary exercise capability

Wingate, C., Pinniger, G., Arthur, P., Bakker, A. & Nowak, K., Oct 2017, In : Neuromuscular Disorders. 27, p. S190-S191 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

Ardicli, D., Nowak, K., Haliloglu, G., Goullee, H., Davis, M., Talim, B., Laing, N. & Topaloglu, H., Oct 2017, In : Neuromuscular Disorders. 27, p. S196-S196 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2 Citations

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation

Boutilier, J. K., Taylor, R. L., Ram, R., McNamara, E., Nguyen, Q., Goullée, H., Chandler, D., Mehta, M., Balmer, L., Laing, N. G., Morahan, G. & Nowak, K. J., 26 Aug 2017, In : Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.

Research output: Contribution to journalArticle

Methylation
Actins
Skeletal Muscle
Quantitative Trait Loci
Protein Isoforms
2016
5 Citations

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

O'Grady, G. L. , Best, H. A. , Sztal, T. E. , Schartner, V. , Sanjuan-Vazquez, M. , Donkervoort, S. , Abath Neto, O. , Sutton, R. B. , Ilkovski, B. , Romero, N. B. , Stojkovic, T. , Dastgir, J. , Waddell, L. B. , Boland, A. , Hu, Y. , Williams, C. , Ruparelia, A. A. , Maisonobe, T. , Peduto, A. J. , Reddel, S. W. & 22 others Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K., Talim, B., Topaloglu, H., Laing, N., North, K. N., Macarthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bönnemann, C. G., Laporte, J. & Cooper, S. T., 3 Nov 2016, In : American Journal of Human Genetics. 99, 5, p. 1086-1105

Research output: Contribution to journalArticle

Open Access
Zebrafish
Muscular Diseases
Oxidoreductases
NAD
Nucleotides
2015

A mine of genetic information

Morahan, G., Ram, R., Balmer, L. & Nowak, K., 2015, International Innovation, p. 66-67 2 p.

Research output: Contribution to specialist publicationArticle

5 Citations

Clinical utility gene card for: Nemaline myopathy - update 2015

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., Nov 2015, In : European Journal of Human Genetics. 23, 11, p. e1-e5 5 p.

Research output: Contribution to journalArticle

Open Access
File
7 Citations

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Yuen, M., Cooper, S. T., Marston, S. B., Nowak, K., Mcnamara, E., Mokbe, N., Ilkovski, B., Ravenscroft, G., Rendu, J., Dewinter, J. M., Klinge, L., Beggs, A. H., North, K. N., Ottenheijm, C. A. C. & Clarke, N. F., 22 Nov 2015, In : Human Molecular Genetics. 24, 22, p. 6278-6292 15 p.

Research output: Contribution to journalArticle

Open Access
pioglitazone
Muscle Weakness
Muscular Diseases
Myosins
Tropomyosin
10 Citations

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S. , Papadaki, M. , De Winter, J. M. , Neu, M. B. , Kirschner, J. , Bolduc, V. , Yang, M. L. , Gibbons, M. A. , Hu, Y. , Dastgir, J. , Leach, M. E. , Rutkowski, A. , Foley, A. R. , Krüger, M. , Wartchow, E. P. , Mcnamara, E. , Ong, R. , Nowak, K. , Laing, N. , Clarke, N. F. & 3 others Ottenheijm, C. A. C., Marston, S. B. & Bönnemann, C. G., Dec 2015, In : Annals of Neurology. 78, 6, p. 982-994

Research output: Contribution to journalArticle

Open Access
File
Tropomyosin
Actins
Phenotype
Muscles
Mutation
2 Citations

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction

Ochala, J., Ravenscroft, G., Mcnamara, E., Nowak, K. & Iwamoto, H., Dec 2015, In : Journal of Structural Biology. 192, 3, p. 331-335 5 p.

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
X-Rays
Mutation
Myosins
13 Citations

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

Sztal, T. E., Zhao, M., Williams, C., Oorschot, V., Parslow, A. C., Giousoh, A., Yuen, M., Hall, T. E., Costin, A., Ramm, G., Bird, P. I., Busch-Nentwich, E. M., Stemple, D. L., Currie, P. D., Cooper, S. T., Laing, N., Nowak, K. & Bryson-Richardson, R. J., Sep 2015, In : Acta Neuropathologica. 130, 3, p. 389-406

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Zebrafish
Muscle Weakness
Actins
Muscles
2014
33 Citations

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, M. , Lehtokari, V. L. , Marston, S. B. , Nyman, T. A. , Barnérias, C. , Beggs, A. H. , Bertini, E. , Ceyhan-Birsoy, O. , Cintas, P. , Gérard, M. J. , Gilbert-Dussardier, B. , Hogue, J. S. , Longman, C. A. L. , Eymard, B. , Frydman, M. I. , Kang, P. , Klinge, L. , Kolski, H. K. , Lochmüller, H. , Magy, L. & 21 others Manel, V., Mayer, M. N., Mercuri, E. A., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R. C., Stewart, W. R., Taratuto, A. L., De Visser, M., Wilichowski, E. K. G., Winer, J. B., Nowak, K., Laing, N., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Grönholm, M. & Wallgren-Pettersson, C., 2014, In : Human Mutation. 35, 7, p. 779-790

Research output: Contribution to journalArticle

Myotonia Congenita
Genetic Association Studies
Mutation
Tropomyosin
Nemaline Myopathies
15 Citations

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Marttila, M., Hanif, M., Lemola, E., Nowak, K., Laitila, J., Grönholm, M., Wallgren-Pettersson, C. & Pelin, K., 2014, In : Skeletal Muscle. 4, p. 1-10

Research output: Contribution to journalArticle

Open Access
Tropomyosin
Actins
Mutation
Nemaline Myopathies
nebulin
2013
11 Citations

Cardiac α-actin over-expression therapy in dominant ACTA1 disease

Ravenscroft, G., Mcnamara, E., Griffiths, L. M., Papadimitriou, J., Hardeman, E. C., Bakker, T., Davies, K. E., Laing, N. & Nowak, K., 2013, In : Human Molecular Genetics. 22, 19, p. 3987-3997

Research output: Contribution to journalArticle

36 Citations

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca2+ sensitivity

Memo, M., Leung, M-C., Ward, D. G., Dos Remédios, C., Morimoto, S., Zhang, L., Ravenscroft, G., Mcnamara, E., Nowak, K., Marston, S. B. & Messer, A. E., 2013, In : Cardiovascular Research. 99, 1, p. 65-73

Research output: Contribution to journalArticle

Open Access
Troponin I
Dilated Cardiomyopathy
Phosphorylation
Tropomyosin
Mutation
1 Citations

Genetics of Muscle Disease

Nowak, K., Lamont, P. & Laing, N., 2013, MUSCLE DISEASE Pathology and Genetics. Weller, R. O. (ed.). Second Edition ed. United Kingdom: John Wiley & Sons, p. 375

Research output: Chapter in Book/Conference paperChapter

22 Citations

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Mokbel, N. , Ilkovski, B. , Kreissl, M. , Memo, M. , Jeffries, C. M. , Marttila, M. , Lehtokari, V-L. , Lemola, E. , Grönholm, M. , Yang, N. , Menard, D. , Marcorelles, P. , Echaniz-Laguna, A. , Reimann, J. , Vainzof, M. , Monnier, N. , Ravenscroft, G. , McNamara, E. , Nowak, K. , Laing, N. & 6 others Wallgren-Pettersson, C., Trewhella, J., Marston, S., Ottenheijm, C., North, K. N. & Clarke, N. F., 2013, In : Brain. 136, p. 494-507

Research output: Contribution to journalArticle

Open Access
12 Citations

Multimodal MRI and 31P-MRS Investigations of the ACTA1 (Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function, Altered Muscle Structure and Disturbed Energy Metabolism

Gineste, C., Duhamel, G., Le Fur, Y., Vilmen, C., Cozzone, P. J., Nowak, K., Bendahan, D. & Gondin, J., 2013, In : PLoS One. 8, 8, p. 12pp

Research output: Contribution to journalArticle

Open Access
36 Citations

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Marston, S., Memo, M., Messer, A., Papadaki, M., Nowak, K., Mcnamara, E., Ong, R., El-Mezgueldi, M., Li, X. & Lehman, W., 2013, In : Human Molecular Genetics. 22, 24, p. 4978-4987

Research output: Contribution to journalArticle

Open Access
Tropomyosin
Muscular Diseases
Skeletal Muscle
Mutation
Actins
6 Citations
Open Access
48 Citations

Skeletal muscle α-actin diseases (actinopathies): Pathology and mechanisms

Nowak, K., Ravenscroft, G. & Laing, N., 2013, In : Acta Neuropathologica. 125, 1, p. 19-32

Research output: Contribution to journalReview article

Open Access
File
Actins
Skeletal Muscle
Pathology
Mutation
Equidae
10 Citations

Tropomyosin isoform expression and phosphorylation in the human heart in health and disease

Marston, S. B., Copeland, O., Messer, A. E., Mcnamara, E., Nowak, K., Zampronio, C. G. & Ward, D. G., 2013, In : Journal of Muscle Research and Cell Motility. 34, 3-4, p. 189-197

Research output: Contribution to journalArticle

Tropomyosin
Phosphorylation
Protein Isoforms
Health
Muscle
2012
4 Citations

Clinical utility gene card for: Nemaline myopathy

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., 2012, In : European Journal of Human Genetics. 20, p. 4pp

Research output: Contribution to journalArticle

Open Access

Indigenous Health: ACTION on Prevention - 50th Annual Australian Society for Medical Research National Scientific Conference

Yazbeck, R., Dawson, P., Rogers, N., West, C., Keogh, R., Wallace, D., Polyak, S., Nowak, K., Burt, R., Taylor, J., Dunn, L., Philp, A. & Parkinson-Lawrence, E., 2012, 50th annual National Scientific Conference of the Australian Society for Medical Research. Australia: Australian Rural Health Educ Network, Vol. 12, p. 1-5

Research output: Chapter in Book/Conference paperConference paper

15 Citations
Open Access
Nemaline Myopathies
muscular diseases
Muscle Weakness
Myosins
myosin
24 Citations

Nemaline Myopathy with Stiffness and Hypertonia associated with an ACTA1 Mutation

Jain, R. K., Jayawant, S., Squier, W., Muntoni, F., Sewry, C. A., Manzur, A., Quinlivan, R., Lillis, S., Jungbluth, H., Sparrow, J. C., Ravenscroft, G., Nowak, K., Memo, M., Marston, S. B. & Laing, N., 2012, In : Neurology. 78, p. 1100-1103

Research output: Contribution to journalReview article

1 Citations

Trusting new age weapons to tackle titin

Nowak, K., 2012, In : Brain. 135, p. 1665-1667

Research output: Contribution to journalArticle

Open Access
2011
17 Citations

Actin nemaline myopathy mouse reproduces disease, suggests other Actin Disease phenotypes and provides cautionary note on muscle transgene expression

Ravenscroft, G., Jackaman, C., Sewry, CA., Mcnamara, E., Squire, SE., Potter, AC., Papadimitriou, J., Griffiths, LM., Bakker, T., Davies, K., Laing, N. & Nowak, K., 2011, In : PLoS One. 6, 12, p. 1-13

Research output: Contribution to journalArticle

Open Access
16 Citations

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Ravenscroft, G., Wilmshurst, J. M., Pillay, K., Sivadori, P., Wallefeld, W., Nowak, K. & Laing, N., 2011, In : Neuromuscular Disorders. 21, p. 31-36

Research output: Contribution to journalReview article

4 Citations

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

Saito, Y., Komaki, H., Hattori, A., Takeuchi, F., Sasaki, M., Kawabata, K., Mitsuhashi, S., Tominaga, K., Hayashi, Y. K., Nowak, K. J., Laing, N. G., Nonaka, I. & Nishino, I., 2011, In : Neuromuscular Disorders. 21, 7, p. 489-493

Research output: Contribution to journalArticle

34 Citations

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse

Song, W., Dyer, E., Stuckey, D. J., Copeland, ON., Leung, M-C., Bayliss, C., Messer, A., Wilkinson, R., Tremoleda, J. L., Schneider, M. D., Harding, S. E., Redwood, C. S., Clarke, K., Nowak, K., Monserrat, L., Well, D. & Marston, S. B., 2011, In : Journal of Biological Chemistry. 286, p. 27582-27593

Research output: Contribution to journalArticle

37 Citations

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

Ravenscroft, G., Jackaman, C., Bringans, S., Papadimitriou, J., Griffiths, L. M., Mcnamara, E., Bakker, T., Davies, K. E., Laing, N. & Nowak, K., 2011, In : Brain. 134, p. 1101-1115

Research output: Contribution to journalArticle

60 Citations

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Duff, R. , Tay, V. , Hackman, P. , Ravenscroft, G. , Mclean, C. , Kennedy, P. , Steinbach, A. , Schöffler, W. , Van Der Ven, P. F. M. , Fürst, D. O. , Song, J. , Dijnović-Carugo, K. , Penttilä, S. , Raheem, O. , Reardon, K. , Malandrini, A. , Gambelli, S. , Villanova, M. , Nowak, K. , Williams, D. R. & 4 others Landers, J. E., Brown Jr, R. H., Udd, B. & Laing, N., 2011, In : American Journal of Human Genetics. 88, p. 1-6

Research output: Contribution to journalArticle

Open Access
81 Citations

Nemaline Myopathies

Wallgren-Pettersson, C., Sewry, C. A., Nowak, K. & Laing, N., 2011, In : SEMINARS IN PEDIATRIC NEUROLOGY. 18, p. 230-238

Research output: Contribution to journalArticle

2010
87 Citations

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Sambuughin, N. , Yau, K. S. , Olive, M. , Duff, R. , Bayarsaikhan, M. , Lu, S. , Gonzalez-Mera, L. , Sivadorai, P. , Nowak, K. , Ravenscroft, G. , Mastaglia, F. , North, K. N. , Ilkovski, B. , Kremer, H. , Lammens, M. , Van Engelen, B. G. M. , Fabian, V. , Lamont, P. , Davis, M. R. , Laing, N. & 1 others Goldfarb, L. G., 2010, In : American Journal of Human Genetics. 87, 6, p. 842-847

Research output: Contribution to journalArticle

Open Access
44 Citations

Investigation of a transgenic mouse model of familial dilated cardiomyopathy

Song, W., Dyer, E., Stuckey, D., Leung, M-C., Memo, M., Mansfield, C., Ferenczi, M., Liu, K., Redwood, C., Nowak, K., Harding, S., Clarke, K., Wells, D. & Marston, S., 2010, In : Journal of Molecular and Cellular Cardiology. 49, p. 380-389

Research output: Contribution to journalArticle

16 Citations

Investigation of changes in skeletal muscle a-actin expression in normal and pathological human and mouse hearts

Copeland, O. N., Nowak, K., Laing, N., Ravenscroft, G., Messer, A. E., Bayliss, C. R. & Marston, S. B., 2010, In : Journal of Muscle Research and Cell Motility. 31, p. 207-214

Research output: Contribution to journalArticle

2009
7 Citations

Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

Feng, J. J., Ushakov, D. S., Ferenczi, M. A., Laing, N., Nowak, K. & Marston, S. B., 2009, In : Journal of Muscle Research and Cell Motility. 30, 1-2, p. 85-92

Research output: Contribution to journalArticle

Nemaline Myopathies
Polymerization
Actins
Microscopy
Microscopic examination
110 Citations

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)

Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H. & Nowak, K. J., Sep 2009, In : Human Mutation. 30, 9, p. 1267-77 11 p.

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
Mutation
Genes
Nemaline Myopathies

Mutations and Polymorphisms of the Skeletal Muscle x-Actin Gene (ACTA1)

Laing, N., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H. & Nowak, K., 2009, In : Human Mutation. 30, 9, p. 1-11

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
Mutation
Genes
Nemaline Myopathies

Rescue of Skeletal muscle x-actin-null mice by cardiac (fetal) x-actin

Nowak, K., Ravenscroft, G., Jackaman, C., Filipovska, A., Davies, S., Lim, E., Squire, S. E., Potter, A. C., Baker, E., Clement, S., Sewry, C. A., Fabian, V., Crawford, K., Lessard, J. L., Griffiths, L. M., Papadimitriou, J. M., Shen, Y., Morahan, G., Davies, K. E. & Laing, N., 25 May 2009, In : Journal of Cell Biology. 185, 5, p. 903-915 13 p.

Research output: Contribution to journalArticle

Open Access
File
Actins
Skeletal Muscle
Myotonia Congenita
Fetal Heart
Hand Strength
45 Citations

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

Nowak, K. , Ravenscroft, G. , Jackaman, C. , Filipovska, A. , Davies, S. , Lim, E. , Squire, S. E. , Potter, A. C. , Baker, E. , Clement, S. , Sewry, C. A. , Fabian, V. , Crawford, K. , Lessard, J. L. , Griffiths, L. M. , Papadimitriou, J. M. , Shen, Y. , Morahan, G. , Bakker, T. , Davies, K. E. & 1 others Laing, N., 2009, In : The Journal of Cell Biology. 185, 5, p. 903-915

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
Myotonia Congenita
Fetal Heart
Hand Strength
2008
16 Citations

Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy

Ilkovski, B., Mokbel, N., Lewis, R. A., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V. M., North, K. N. & Cooper, S. T., 2008, In : Journal of Neuropathology and Experimental Neurology. 67, 9, p. 867-877

Research output: Contribution to journalArticle

Nemaline Myopathies
Tropomyosin
Mutant Proteins
Tropomodulin
Far-Western Blotting