Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

BAG3 myofibrillar myopathy presenting with cardiomyopathy

(2015) Chamindra G. Konersman et al.   NEUROMUSCULAR DISORDERS

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

(2015) Ioannis Karakikes et al.   Nature Communications

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

(2014) J. R. Golbus et al.   Circulation-Cardiovascular Genetics

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death

(2013) Andreas Brodehl et al.   Circulation-Cardiovascular Genetics

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

(2013) A. Maerkens et al.   Journal of Proteomics

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

(2012) Enkhsaikhan Purevjav et al.   HUMAN MOLECULAR GENETICS

Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants

(2012) Andreas Brodehl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients

(2012) Rudolf A. Kley et al.   MOLECULAR & CELLULAR PROTEOMICS

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

(2011) Rachael M. Duff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro

(2011) Misato Fujita et al.   DEVELOPMENTAL BIOLOGY

The nanomechanical properties of rat fibroblasts are modulated by interfering with the vimentin intermediate filament system

(2011) Marija Plodinec et al.   JOURNAL OF STRUCTURAL BIOLOGY

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

(2011) A. van den Wijngaard et al.   Netherlands Heart Journal

Desmin-related myopathy

(2010) KY van Spaendonck-Zwarts et al.   CLINICAL GENETICS

Mutations in Desmin's Carboxy-Terminal “Tail” Domain Severely Modify Filament and Network Mechanics

(2010) Harald Bär et al.   JOURNAL OF MOLECULAR BIOLOGY

Restrictive Cardiomyopathy in Childhood

(2010) Susan W. Denfield et al.   Heart Failure Clinics

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy

(2008) Simon Karam et al.   Congenital Heart Disease