Associated Papers
Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres.
Cantara S et al.
Thyroid : Official Journal of the American Thyroid Association, 2012
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
Functional characterization of telomerase RNA variants found in patients with hematologic disorders.
Ly H et al.
Blood, 2005
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
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