Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.
Viswanathan MC et al.
Genetics, 2025
Coronary microcirculation dysfunction causing ischemia with non-obstructive coronary arteries: a case report.
Qi W et al.
Frontiers in Cardiovascular Medicine, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
Genetic Basis of Hypertrophic Cardiomyopathy in Cats.
Grzeczka A et al.
Current Issues in Molecular Biology, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.
Boeykens F et al.
Frontiers in Veterinary Science, 2024
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
Naderi N et al.
Bmc Cardiovascular Disorders, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Feline myocardial transcriptome in health and in hypertrophic cardiomyopathy-A translational animal model for human disease.
Joshua J et al.
Plos One, 2023
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.
Akiyama N et al.
Plos One, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.
Serra W et al.
Heliyon, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.
O'Donnell K et al.
Animal Genetics, 2021
Sudden cardiac death: A comparative review of humans, dogs and cats.
Brugada-Terradellas C et al.
Veterinary Journal (london, England : 1997), 2021
Genetics of feline hypertrophic cardiomyopathy.
Gil-Ortuño C et al.
Clinical Genetics, 2020
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy.
McNamara JW et al.
Frontiers in Physiology, 2020
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.
Schipper T et al.
European Journal of Human Genetics : Ejhg, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Viswanathan MC et al.
Human Molecular Genetics, 2017
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z et al.
Bmc Medical Genetics, 2017
HapIso: An Accurate Method for the Haplotype- Specific Isoforms Reconstruction From Long Single-Molecule Reads.
Mangul S et al.
Ieee Transactions on Nanobioscience, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
Dahl-Halvarsson M et al.
Plos One, 2017
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
Yüceyar N et al.
Neuromuscular Disorders : Nmd, 2015
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T et al.
Neuromuscular Disorders : Nmd, 2012
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S et al.
Neuromuscular Disorders : Nmd, 2011
Actinopathies and myosinopathies.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2009
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E et al.
Neuromuscular Disorders : Nmd, 2009
Thick filament diseases.
Oldfors A et al.
Advances in Experimental Medicine and Biology, 2008
Myosin storage myopathy with cardiomyopathy.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2007