Associated Papers
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 2025
41465155 (PubMed )
Supplement: genes-16-01482-s001.zip › genes-4023685-supplementary.pdf
Basic residues within the cardiac troponin T C terminus are required for full inhibition of muscle contraction and limit activation by calcium.
Johnson D et al.
The Journal of Biological Chemistry, 2019
Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.
Kalyva A et al.
Journal of Muscle Research and Cell Motility, 2014
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
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