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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
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
4201999
Molecular mechanisms of muscular dystrophies: old and new players
KE Davies, KJ Nowak
Nature reviews Molecular cell biology 7 (10), 762-773, 2006
4042006
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
3792004
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
253*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
2082009
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
2062003
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
1672001
Nemaline myopathies
C Wallgren-Pettersson, CA Sewry, KJ Nowak, NG Laing
Seminars in pediatric neurology 18 (4), 230-238, 2011
1612011
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
1232011
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
1082004
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
1012001
When contractile proteins go bad: the sarcomere and skeletal muscle disease
NG Laing, KJ Nowak
Bioessays 27 (8), 809-822, 2005
1002005
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
962014
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
962014
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
952006
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms
KJ Nowak, G Ravenscroft, NG Laing
Acta neuropathologica 125 (1), 19-32, 2013
942013
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
902004
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
872004
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
862009
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
862007
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