Associated Papers
Divergent Molecular Phenotypes in Point Mutations at the Same Residue in Beta-Myosin Heavy Chain Lead to Distinct Cardiomyopathies.
Lehman SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
32651905 (PubMed )
Supplement: 12551_2020_721_MOESM1_ESM.pdf
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.
Montag J et al.
Scientific Reports, 2018
Novel myosin-based therapies for congenital cardiac and skeletal myopathies.
Ochala J et al.
Journal of Medical Genetics, 2016
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2016
Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects.
Kawashiri MA et al.
Heart and Vessels, 2014
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.
Dellefave LM et al.
Circulation. Cardiovascular Genetics, 2009
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
Sarcomere mutations in cardiogenesis and ventricular noncompaction.
McNally E et al.
Trends in Cardiovascular Medicine, 2009
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW et al.
Clinical Genetics, 2008
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