Associated Papers
Retrospective variant reclassification and resequencing in hypertrophic cardiomyopathy: a reference unit centre experience.
Cuesta-Llavona E et al.
European Journal of Preventive Cardiology, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.
Zech ATL et al.
Cells, 2022
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S et al.
Heart Failure Reviews, 2022
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".
Schänzer A et al.
Journal of Muscle Research and Cell Motility, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Structure and Function of Filamin C in the Muscle Z-Disc.
Mao Z et al.
International Journal of Molecular Sciences, 2020
Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
Xiao F et al.
Translational Pediatrics, 2020
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
Schubert J et al.
Human Mutation, 2018
[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].
Ader F et al.
Medecine Sciences : M/s, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A et al.
Human Mutation, 2018
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
Jaafar N et al.
Genetic Testing and Molecular Biomarkers, 2016
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A et al.
Human Mutation, 2016
The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy.
Gómez J et al.
Revista Espanola De Cardiologia (english Ed.), 2016
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R et al.
Nature Communications, 2014