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K. Nowak · SciRah

Researcher profile · Semantic Scholar

K. Nowak

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K. Nowak — researcher profile on SciRah

h-index: 36
Works: 124
Citations: 4,443

Most-cited papers

Molecular mechanisms of muscular dystrophies: old and new players
K. Davies, K. Nowak
2006Nature reviews. Molecular cell biology350 citations
Semantic Scholar
Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1)
N. Laing, D. Dye, C. Wallgren-Pettersson, G. Richard +10 more
2009Human Mutation204 citations Open access
Semantic Scholar
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
N. Sambuughin, K. Yau, M. Olivé, R. Duff +17 more
2010American Journal of Human Genetics157 citations Open access
Semantic Scholar
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
R. Duff, V. Tay, P. Hackman, G. Ravenscroft +20 more
2011American Journal of Human Genetics137 citations Open access
Semantic Scholar
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
K. Nowak, G. Ravenscroft, N. Laing
2012Acta Neuropathologica123 citations Open access
Semantic Scholar
Nemaline myopathies.
C. Wallgren-Pettersson, C. Sewry, K. Nowak, N. Laing
2011Seminars in Pediatric Neurology116 citations
Semantic Scholar
Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
M. Marttila, V. Lehtokari, Steven B Marston, T. Nyman +37 more
2014Human Mutation113 citations Open access
Semantic Scholar
When contractile proteins go bad: the sarcomere and skeletal muscle disease
N. Laing, K. Nowak
2005Bioessays99 citations
Semantic Scholar
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
A. D'Amico, C. Graziano, G. Pacileo, S. Petrini +11 more
2006Neuromuscular Disorders90 citations
Semantic Scholar
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Steven B Marston, M. Memo, A. Messer, M. Papadaki +6 more
2013Human Molecular Genetics87 citations Open access
Semantic Scholar
Nemaline myopathy caused by absence of α‐skeletal muscle actin
K. Nowak, C. Sewry, C. Navarro, W. Squier +13 more
200784 citations
Semantic Scholar
Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects
C. F. Costa, H. Rommelaere, Davy Waterschoot, K. Sethi +4 more
2004Journal of Cell Science83 citations Open access
Semantic Scholar
Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse*
Wei-Hua Song, Emma C. Dyer, Daniel J Stuckey, O. Copeland +13 more
2011Journal of Biological Chemistry77 citations Open access
Semantic Scholar
Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin
K. Nowak, G. Ravenscroft, C. Jackaman, A. Filipovska +17 more
2009Journal of Cell Biology69 citations Open access
Semantic Scholar
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
M. Memo, M. Leung, D. Ward, C. dos Remedios +7 more
2013Cardiovascular Research68 citations Open access
Semantic Scholar
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
G. Ravenscroft, C. Jackaman, Scott D Bringans, J. Papadimitriou +6 more
2011Brain : a journal of neurology67 citations Open access
Semantic Scholar
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Nancy Mokbel, B. Ilkovski, M. Kreissl, M. Memo +22 more
2013Brain : a journal of neurology57 citations Open access
Semantic Scholar
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
G. O'Grady, H. Best, Tamar E. Sztal, V. Schartner +38 more
2016American Journal of Human Genetics56 citations Open access
Semantic Scholar
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function
Tamar E. Sztal, Mo Zhao, Caitlin Williams, V. Oorschot +14 more
2015Acta Neuropathologica53 citations Open access
Semantic Scholar
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations
M. Marttila, M. Hanif, E. Lemola, K. Nowak +4 more
2014Skeletal Muscle53 citations Open access
Semantic Scholar
Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.
G. Ravenscroft, K. Nowak, C. Jackaman, S. Clément +4 more
2007Cell Motility and the Cytoskeleton52 citations Open access
Semantic Scholar
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Michaela Yuen, S. Cooper, Steven B Marston, K. Nowak +11 more
2015Human Molecular Genetics44 citations Open access
Semantic Scholar
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
K. Nowak, C. Sewry, C. Navarro, W. Squier +13 more
2007Annals of Neurology44 citations
Semantic Scholar
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
S. Beecroft, K. Yau, R. Allcock, K. Mina +16 more
2020Annals of Clinical and Translational Neurology42 citations Open access
Semantic Scholar
Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression
G. Ravenscroft, C. Jackaman, C. Sewry, E. McNamara +8 more
2011PLoS ONE41 citations Open access
Semantic Scholar
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
W. Wallefeld, S. Krause, K. Nowak, D. Dye +12 more
2006Neuromuscular Disorders37 citations
Semantic Scholar
Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness
J. Ochala, G. Ravenscroft, N. Laing, K. Nowak
2012PLoS ONE34 citations Open access
Semantic Scholar
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice
J. Tinklenberg, E. Siebers, M. Beatka, H. Meng +9 more
2018Human Molecular Genetics31 citations Open access
Semantic Scholar
Variable outcomes of human heart attack recapitulated in genetically diverse mice
Ekaterina Salimova, K. Nowak, Ana C. Estrada, Milena B. Furtado +8 more
2019npj Regenerative Medicine30 citations Open access
Semantic Scholar
Recent advances in understanding congenital myopathies
G. Ravenscroft, R. Bryson-Richardson, K. Nowak, N. Laing
2018F1000Research29 citations Open access
Semantic Scholar
Investigation of changes in skeletal muscle α-actin expression in normal and pathological human and mouse hearts
O. Copeland, K. Nowak, N. Laing, G. Ravenscroft +3 more
2010Journal of Muscle Research and Cell Motility28 citations
Semantic Scholar
Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy
B. Ilkovski, Nancy Mokbel, Raymond A. Lewis, K. Walker +6 more
2008Journal of Neuropathology and Experimental Neurology28 citations Open access
Semantic Scholar
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.
J. Boutilier, R. Taylor, R. Ram, E. McNamara +8 more
2017Biochimica et Biophysica Acta. Gene Regulatory Mechanisms27 citations Open access
Semantic Scholar
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
G. Ravenscroft, E. McNamara, L. Griffiths, J. Papadimitriou +5 more
2013Human Molecular Genetics27 citations Open access
Semantic Scholar
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
R. Jain, S. Jayawant, W. Squier, F. Muntoni +11 more
2012Neurology27 citations
Semantic Scholar
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
G. Ravenscroft, J. Wilmshurst, K. Pillay, P. Sivadorai +3 more
2011Neuromuscular Disorders25 citations
Semantic Scholar
Tropomyosin isoform expression and phosphorylation in the human heart in health and disease
Steven B Marston, O. Copeland, A. Messer, Elyshia MacNamara +3 more
2013Journal of Muscle Research and Cell Motility24 citations
Semantic Scholar
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
C. Gineste, G. Duhamel, Y. Le Fur, C. Vilmen +4 more
2013PLoS ONE24 citations Open access
Semantic Scholar
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy
A. Messineo, C. Gineste, Tamar E. Sztal, E. McNamara +8 more
2018Scientific Reports22 citations Open access
Semantic Scholar
Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometry.
G. Ravenscroft, S. Colley, K. Walker, S. Clément +5 more
2008Neuromuscular Disorders21 citations Open access
Semantic Scholar
Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.
K. Donner, K. Nowak, M. Aro, K. Pelin +1 more
2006Genomics21 citations Open access
Semantic Scholar
Muscular dystrophies related to the cytoskeleton/nuclear envelope.
K. Nowak, Karl J. A. McCullagh, Ellen Poon, K. Davies
2005Novartis Foundation symposium17 citations
Semantic Scholar
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
E. McNamara, R. Taylor, Joshua S. Clayton, H. Goullée +8 more
2019Human Molecular Genetics14 citations Open access
Semantic Scholar
Clinical utility gene card for: Nemaline myopathy – update 2015
K. Nowak, Mark R. Davis, C. Wallgren-Pettersson, P. Lamont +1 more
2015European Journal of Human Genetics14 citations Open access
Semantic Scholar
Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
J. Ochala, H. Iwamoto, G. Ravenscroft, N. Laing +1 more
2013Human Molecular Genetics14 citations Open access
Semantic Scholar
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
Yoshiaki Saito, H. Komaki, A. Hattori, F. Takeuchi +9 more
2011Neuromuscular Disorders14 citations
Semantic Scholar
Muscle weakness in TPM 3-myopathy is due to reduced Ca 2 +-sensitivity and impaired acto-myosin cross-bridge cycling in slow fi bres
Michaela Yuen, S. Cooper, Steven B Marston, K. Nowak +11 more
201513 citations
Semantic Scholar
Clinical utility gene card for: Nemaline myopathy
K. Nowak, Mark R. Davis, C. Wallgren-Pettersson, P. Lamont +1 more
2012European Journal of Human Genetics13 citations Open access
Semantic Scholar
Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart.
C. Jackaman, K. Nowak, G. Ravenscroft, Esther M. Lim +2 more
2007Cell Motility and the Cytoskeleton12 citations Open access
Semantic Scholar
Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation
J. Boutilier, R. Taylor, Tracy S. Mann, E. McNamara +7 more
2017G3: Genes, Genomes, Genetics11 citations Open access
Semantic Scholar

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