| 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 | 462 | 1999 |
| 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 | 440 | 2004 |
| Molecular mechanisms of muscular dystrophies: old and new players KE Davies, KJ Nowak Nature reviews Molecular cell biology 7 (10), 762-773, 2006 | 437 | 2006 |
| 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 | 270* | 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 | 265 | 2009 |
| 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 | 231 | 2003 |
| Nemaline myopathies C Wallgren-Pettersson, CA Sewry, KJ Nowak, NG Laing Seminars in pediatric neurology 18 (4), 230-238, 2011 | 188 | 2011 |
| 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 | 181 | 2001 |
| 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 | 147 | 2011 |
| 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 | 118 | 2004 |
| 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 | 112 | 2014 |
| 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 | 110 | 2001 |
| Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms KJ Nowak, G Ravenscroft, NG Laing Acta neuropathologica 125, 19-32, 2013 | 109 | 2013 |
| 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 | 106 | 2004 |
| 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 | 104 | 2006 |
| 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 | 102 | 2004 |
| When contractile proteins go bad: the sarcomere and skeletal muscle disease NG Laing, KJ Nowak Bioessays 27 (8), 809-822, 2005 | 101 | 2005 |
| 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 | 99 | 2007 |
| 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 | 96 | 2009 |
| Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients S Marston, M Memo, A Messer, M Papadaki, K Nowak, E McNamara, ... Human molecular genetics 22 (24), 4978-4987, 2013 | 90 | 2013 |
