Associated Papers
Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.
Noureddine M et al.
The Journal of General Physiology, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X et al.
Acta Neuropathologica, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Fan LL et al.
Cytogenetic and Genome Research, 2019
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
28790153 (PubMed )
Supplement: circgenetics_circcvg-2016-001666_supp1.pdf
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
Chiu C et al.
Journal of the American College of Cardiology, 2010
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