Search Results - "Lemola, Elina"
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Profiling of low molecular weight proteins in plasma from locally irradiated individuals
Published in Journal of radiation research (01-07-2014)“…In studies reported in the 1960s and since, blood plasma from radiation-exposed individuals has been shown to induce chromosome damage when transferred into…”
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Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy
Published in Biochemical journal (15-02-2012)“…NM (nemaline myopathy) is a rare genetic muscle disorder defined on the basis of muscle weakness and the presence of structural abnormalities in the muscle…”
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Journal Article -
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
Published in Brain (London, England : 1878) (01-02-2013)“…Mutations in the TPM2 gene, which encodes β-tropomyosin, are an established cause of several congenital skeletal myopathies and distal arthrogryposis. We have…”
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Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations
Published in Skeletal muscle (01-08-2014)“…Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least…”
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Journal Article