Associated Papers
[A family with nonsynonymous mutations of filamin C actin-binding domain].
Hirayama M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Sellung D et al.
Cells, 2023
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA et al.
Neurology. Genetics, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.
Eden M et al.
Journal of Clinical Medicine, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
Structure and Function of Filamin C in the Muscle Z-Disc.
Mao Z et al.
International Journal of Molecular Sciences, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy.
Zhang YT et al.
Chinese Medical Journal, 2018
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
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.
van den Bogaart FJ et al.
Neuromuscular Disorders : Nmd, 2017
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdés-Mas R et al.
Nature Communications, 2014
Filamin C-related myopathies: pathology and mechanisms.
Fürst DO et al.
Acta Neuropathologica, 2013
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Kley RA et al.
Brain : a Journal of Neurology, 2012
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM et al.
American Journal of Human Genetics, 2011
Muscular Dystrophy Model.
Potikanond S et al.
Advances in Experimental Medicine and Biology, 0