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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Beecroft SJ, Yau KS, Allcock RJN, et al.
Annals of clinical and translational neurology, 2020, 7, 3, p 353
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila JM, McNamara EL, Wingate CD, et al.
Acta neuropathologica communications, 2020, 8, 1, p 18
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease
McNamara EL, Taylor RL, Clayton JS, et al.
Human molecular genetics, 2019
Recent advances in understanding congenital myopathies
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, et al.
F1000Research, 2018
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
Coote DJ, Davis MR, Cabrera M, et al.
European journal of human genetics : EJHG, 2018
Clinical Utility Gene Card for: Becker muscular dystrophy
Coote D, Davis MR, Cabrera M, et al.
European journal of human genetics : EJHG, 2018, 26, 7, p 1065
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
O'Grady GL, Best HA, Sztal TE, et al.
American journal of human genetics, 2016, 99, 5, p 1086
Skeletal muscle alpha-actin diseases (actinopathies) : pathology and mechanisms
Nowak KJ, Ravenscroft G, Laing NG
Acta neuropathologica, 2013, 125, 1, p. 19-32
Clinical utility gene card for: Nemaline myopathy
Nowak KJ, Davis MR, Wallgren-Pettersson C, et al.
European journal of human genetics, 2012, 20, 6, p. e1-e4
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
Jain RK, Jayawant S, Squier W, et al.
Neurology, 2012, 78, 4, p. 1100-1103
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
Duff RM, Tay V, Hackman P, et al.
American journal of human genetics (The), 2011, 88, 6, p. 729-740
Nemaline myopathies
Wallgren-Pettersson C, Sewry CA, Nowak KJ, et al.
Seminars in pediatric neurology, 2011, 18, 4, p. 230-238
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Sambuughin N, Yau KS, Olivé M, et al.
American journal of human genetics (The), 2010, 87, 6, p. 842-847
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)
Laing NG, Dye DE, Wallgren-Pettersson C, et al.
Human mutation, 2009, 30, 9, p. 1267-1277
Therapeutic approaches for the sarcomeric protein diseases
Nowak KJ
Advances in experimental medicine and biology, 2008, 642, p. 207-223
Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases – determination of cardiac alpha-actin by MRM mass spectrometry (Poster)
Collectif, Ravenscroft G, Colley SMJ, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 786
A mutant skeletal muscle alpha-actin gene, fused to enhanced green fluorescent protein (EGFP) produces a unique myopathic mouse model (Poster)
Collectif, Nowak KJ, Ravenscroft G, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 785-786
Nemaline myopathy caused by absence of of alpha-skeletal muscle actin
Nowak KJ, Sewry CA, Navarro C, et al.
Annals of neurology, 2007, 61, 2, p 175
Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128
Donner K, Nowak KJ, Aro M, et al.
Genomics, 2006, 88, 4, p 489
Molecular mechanisms of muscular dystrophies : old and new players
Davies KE, Nowak KJ
Nature reviews. Molecular cell biology, 2006, 7, 10, p. 762-773
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Wallefeld W, Krause S, Nowak KJ, et al.
Neuromuscular disorders : NMD, 2006, 16, 9-10, p. 541-547
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects
Costa CF, Rommelaere H, Waterschoot D, et al.
Journal of cell science, 2004, 117, 15, p. 3367-3377
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
Wallgren-Pettersson C, Pelin K, Nowak KJ, et al.
ENMC International Consortium on Nemaline Myopathy
Neuromuscular disorders : NMD, 2004, 14, 8-9, p 461
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
Sparrow JC, Nowak KJ, Durling HJ, et al.
Neuromuscular disorders : NMD, 2003, 13, 7-8, p. 519-531
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
Jungbluth H, Sewry CA, Brown SC, et al.
Neuromuscular disorders : NMD, 2001, 11, 1, p. 35-40
