Associated Papers
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.
Sevdali M et al.
Neuromuscular Disorders : Nmd, 2013
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Visegrády B et al.
The Biochemical Journal, 2010
Actinopathies and myosinopathies.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2009
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Domazetovska A et al.
Annals of Neurology, 2007
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Hutchinson DO et al.
Neuromuscular Disorders : Nmd, 2006
138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands.
Wallgren-Pettersson C et al.
Neuromuscular Disorders : Nmd, 2006
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B et al.
Human Molecular Genetics, 2004
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
Costa CF et al.
Journal of Cell Science, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ et al.
Nature Genetics, 1999
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