Associated Papers
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2011
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Visegrády B et al.
The Biochemical Journal, 2010
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
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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