Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy.
Dong J et al.
Journal of Multidisciplinary Healthcare, 2024
Force-Dependent Structural Changes of Filamin C Rod Domains Regulated by Filamin C Dimer.
Deng Y et al.
Journal of the American Chemical Society, 2023
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Sellung D et al.
Cells, 2023
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A et al.
Orphanet Journal of Rare Diseases, 2022
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
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 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
Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.
Eden M et al.
Journal of Clinical Medicine, 2021
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.
Roldán-Sevilla A et al.
Circulation. Genomic and Precision Medicine, 2019
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
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
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R et al.
Nature Communications, 2014