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Kristen J. Nowak
Kristen J. Nowak
Honorary Research Fellow
Verified email at uwa.edu.au
Title
Cited by
Cited by
Year
Duchenne muscular dystrophy and dystrophin: Pathogenesis and opportunities for treatment: Third in molecular medicine review series
KJ Nowak, KE Davies
EMBO reports 5 (9), 872-876, 2004
4752004
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ...
Nature genetics 23 (2), 208-212, 1999
4721999
Molecular mechanisms of muscular dystrophies: old and new players
KE Davies, KJ Nowak
Nature reviews Molecular cell biology 7 (10), 762-773, 2006
4502006
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
N Sambuughin, KS Yau, M Olivé, RM Duff, M Bayarsaikhan, S Lu, ...
The American Journal of Human Genetics 87 (6), 842-847, 2010
280*2010
Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)
NG Laing, DE Dye, C Wallgren‐Pettersson, G Richard, N Monnier, S Lillis, ...
Human mutation 30 (9), 1267-1277, 2009
2682009
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
JC Sparrow, KJ Nowak, HJ Durling, AH Beggs, C Wallgren-Pettersson, ...
Neuromuscular disorders 13 (7-8), 519-531, 2003
2352003
Nemaline myopathies
C Wallgren-Pettersson, CA Sewry, KJ Nowak, NG Laing
Seminars in pediatric neurology 18 (4), 230-238, 2011
1902011
Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene
B Ilkovski, ST Cooper, K Nowak, MM Ryan, N Yang, C Schnell, HJ Durling, ...
The American Journal of Human Genetics 68 (6), 1333-1343, 2001
1832001
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
RM Duff, V Tay, P Hackman, G Ravenscroft, C McLean, P Kennedy, ...
The American Journal of Human Genetics 88 (6), 729-740, 2011
1562011
Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
C Wallgren-Pettersson, K Pelin, KJ Nowak, F Muntoni, NB Romero, ...
Neuromuscular Disorders 14 (8-9), 461-470, 2004
1232004
Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
M Marttila, VL Lehtokari, S Marston, TA Nyman, C Barnerias, AH Beggs, ...
Human mutation 35 (7), 779-790, 2014
1212014
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
KJ Nowak, G Ravenscroft, NG Laing
Acta neuropathologica 125, 19-32, 2013
1182013
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene
H Jungbluth, CA Sewry, SC Brown, KJ Nowak, NG Laing, ...
Neuromuscular Disorders 11 (1), 35-40, 2001
1092001
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
B Ilkovski, KJ Nowak, A Domazetovska, AL Maxwell, S Clement, ...
Human molecular genetics 13 (16), 1727-1743, 2004
1082004
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
A D’Amico, C Graziano, G Pacileo, S Petrini, KJ Nowak, R Boldrini, ...
Neuromuscular Disorders 16 (9-10), 548-552, 2006
1072006
Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects
CF Costa, H Rommelaere, D Waterschoot, KK Sethi, KJ Nowak, NG Laing, ...
Journal of cell science 117 (15), 3367-3377, 2004
1052004
When contractile proteins go bad: the sarcomere and skeletal muscle disease
NG Laing, KJ Nowak
Bioessays 27 (8), 809-822, 2005
1042005
Nemaline myopathy caused by absence of α‐skeletal muscle actin
KJ Nowak, CA Sewry, C Navarro, W Squier, C Reina, JR Ricoy, ...
Annals of Neurology: Official Journal of the American Neurological …, 2007
1002007
Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia
GF Watts, DR Sullivan, DL Hare, KM Kostner, AE Horton, DA Bell, T Brett, ...
Heart, Lung and Circulation 30 (3), 324-349, 2021
962021
Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin
KJ Nowak, G Ravenscroft, C Jackaman, A Filipovska, SM Davies, EM Lim, ...
Journal of cell biology 185 (5), 903-915, 2009
952009
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