Related references
Note: Only part of the references are listed.Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant
Sarah Costa et al.
CARDIOLOGY JOURNAL (2021)
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
Joao B. Augusto et al.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING (2020)
Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant
Peng Chen et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype
Charlotte L. Hall et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)
Cardiovascular magnetic resonance imaging volume criteria for arrhythmogenic right ventricular cardiomyopathy: need for update?
Mohammed Y. Khanji et al.
EUROPEAN HEART JOURNAL (2020)
Right ventricular dilatation in arrhythmogenic right ventricular cardiomyopathy: need for a revision of the 2010 International Task Force criteria
Domenico Corrado et al.
EUROPEAN HEART JOURNAL (2020)
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5
Fernando Dominguez et al.
HEART RHYTHM (2020)
Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies
Ali J. Marian et al.
CARDIOVASCULAR RESEARCH (2020)
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History
Alida L. P. Caforio et al.
CIRCULATION (2020)
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
Cynthia A. James et al.
EUROPEAN HEART JOURNAL (2020)
Natural History of Arrhythmogenic Cardiomyopathy
Giulia Mattesi et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Virtually Perfect? Telemedicine for Covid-19
Judd E. Hollander et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria
Domenico Corrado et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis
Domenico Corrado et al.
EUROPEAN HEART JOURNAL (2020)
Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging
Wouter P. te Rijdt et al.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING (2019)
Genomic Reorganization of Lamin-Associated Domains in Cardiac Myocytes Is Associated With Differential Gene Expression and DNA Methylation in Human Dilated Cardiomyopathy
Sirisha M. Cheedipudi et al.
CIRCULATION RESEARCH (2019)
Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy
Thomas Morris Hey et al.
CIRCULATION-HEART FAILURE (2019)
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy
Victoria N. Parikh et al.
CIRCULATION-HEART FAILURE (2019)
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy
Jeffrey A. Towbin et al.
HEART RHYTHM (2019)
Are innovation and new technologies in precision medicine paving a new era in patients centric care?
Attila A. Seyhan et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2019)
Molecular mechanisms of arrhythmogenic cardiomyopathy
Karyn M. Austin et al.
NATURE REVIEWS CARDIOLOGY (2019)
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi et al.
CIRCULATION (2019)
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report
Perry M. Elliott et al.
EUROPEAN JOURNAL OF HEART FAILURE (2019)
Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents
Elizabeth S. DeWitt et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
Nicolo Salvarani et al.
NATURE COMMUNICATIONS (2019)
Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts
Babken Asatryan
JOURNAL OF CLINICAL MEDICINE (2019)
Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy
Stephen P. Chelko et al.
CIRCULATION (2019)
Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN)
Pieter A. Doevendans et al.
CIRCULATION RESEARCH (2019)
The All of Us Research Program
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β
Laura Padron-Barthe et al.
CIRCULATION (2019)
Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management
Cynthia A. James et al.
ANNUAL REVIEW OF MEDICINE, VOL 70 (2019)
Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management
Stacey Peters et al.
HEART LUNG AND CIRCULATION (2019)
Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy
Alexandros Protonotarios et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2019)
Desmosomes in Human Disease
Nicole A. Najor
ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 13 (2018)
RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling
Maarten M. G. van den Hoogenhof et al.
CIRCULATION (2018)
Desmin and Cardiac Disease An Unfolding Story
Sonia R. Singh et al.
CIRCULATION RESEARCH (2018)
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
Melissa A. Kelly et al.
GENETICS IN MEDICINE (2018)
Impact of Exercise Restriction on Arrhythmic Risk Among Patients With Arrhythmogenic Right Ventricular Cardiomyopathy
Weijia Wang et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2018)
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
Francisco Jose Bermudez-Jimenez et al.
CIRCULATION (2018)
An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis
Diptendu Chatterjee et al.
EUROPEAN HEART JOURNAL (2018)
Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies
Babken Asatryan et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2018)
Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia JACC State-of-the-Art Review
Estelle Gandjbakhch et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)
Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals
Valerie D. Myers et al.
JAMA CARDIOLOGY (2018)
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Fernando Dominguez et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2018)
An avatar for precision cancer therapy
Shumei Kato et al.
NATURE BIOTECHNOLOGY (2018)
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
Gardar Sveinbjornsson et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures
Rene L. Begay et al.
JACC-CLINICAL ELECTROPHYSIOLOGY (2018)
Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopathy Presenting as Acute Myocarditis
Kaitlyn Reichl et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy
Marzia De Bortoli et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
Phenotypic expression of ARVC: How 12 lead ECG can predict left or right ventricle involvement. A familiar case series and a review of literature
Luca Gaido et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2017)
Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy
Kari L. Turkowski et al.
CONGENITAL HEART DISEASE (2017)
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis
Zhenyan Xu et al.
SCIENTIFIC REPORTS (2017)
Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy
Gun-Sik Cho et al.
CELL REPORTS (2017)
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy
Bongani M. Mayosi et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis
Anneline S. J. M. te Riele et al.
CARDIOVASCULAR RESEARCH (2017)
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis
Edgar T. Hoorntje et al.
CARDIOVASCULAR RESEARCH (2017)
Lamina-Associated Domains: Links with Chromosome Architecture, Heterochromatin, and Gene Repression
Bas van Steensel et al.
CELL (2017)
Refining the molecular organization of the cardiac intercalated disc
Sarah H. Vermij et al.
CARDIOVASCULAR RESEARCH (2017)
Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy
Alexandros Protonotarios et al.
EUROPACE (2016)
Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy
Kathleen A. Hodgkinson et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2016)
Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases
Yigal M. Pinto et al.
EUROPEAN HEART JOURNAL (2016)
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Andreas Brodehl et al.
HUMAN MUTATION (2016)
LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort
Koichi Kato et al.
JOURNAL OF CARDIOLOGY (2016)
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Martin F. Ortiz-Genga et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
James S. Ware et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy
Stephen P. Chelko et al.
JCI INSIGHT (2016)
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
Teresa Trenkwalder et al.
BMC MEDICAL GENETICS (2015)
Characterization of the Left-Sided Substrate in Arrhythmogenic Right Ventricular Cardiomyopathy
Benjamin Berte et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2015)
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
Judith A. Groeneweg et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
Aditya Bhonsale et al.
EUROPEAN HEART JOURNAL (2015)
Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy
Anne-Christine Ruwald et al.
EUROPEAN HEART JOURNAL (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genetics of myocarditis in arrhythmogenic right ventricular dysplasia
Jose Maria Lopez-Ayala et al.
HEART RHYTHM (2015)
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
Judith A. Groeneweg et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2015)
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias
Fang Yuan et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2015)
Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy
Cinzia Forleo et al.
PLOS ONE (2015)
Arrhythmogenic cardiomyopathy and Brugada syndrome: Diseases of the connexome
Esperanza Agullo-Pascual et al.
FEBS LETTERS (2014)
Decreased Levels of BAG3 in a Family With a Rare Variant and in Idiopathic Dilated Cardiomyopathy
Arthur M. Feldman et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2014)
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy
Francesca Brun et al.
JOURNAL OF MEDICAL GENETICS (2014)
The MOGE(S) Classification of Cardiomyopathy for Clinicians
Eloisa Arbustini et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2014)
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation
Maria Franaszczyk et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2014)
Novel and Highly Lethal NKX2.5 Missense Mutation in a Family With Sudden Death and Ventricular Arrhythmia
Jennifer L. Perera et al.
PEDIATRIC CARDIOLOGY (2014)
TMEM43 Mutation p.S358L Alters Intercalated Disc Protein Expression and Reduces Conduction Velocity in Arrhythmogenic Right Ventricular Cardiomyopathy
Vinayakumar Siragam et al.
PLOS ONE (2014)
Exercise has a Disproportionate Role in the Pathogenesis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in Patients Without Desmosomal Mutations
Abhishek C. Sawant et al.
JOURNAL OF THE AMERICAN HEART ASSOCIATION (2014)
Filamin C-related myopathies: pathology and mechanisms
Dieter O. Fuerst et al.
ACTA NEUROPATHOLOGICA (2013)
The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac
Andreas Brodehl et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2013)
Arrhythmogenic Right Ventricular Dysplasia
Hugh Calkins
CURRENT PROBLEMS IN CARDIOLOGY (2013)
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada
Annika F. M. Haywood et al.
EUROPEAN HEART JOURNAL (2013)
Mutations in the area composita protein T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy
Jolanda van Hengel et al.
EUROPEAN HEART JOURNAL (2013)
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
Berivan Baskin et al.
HUMAN GENETICS (2013)
Naxos disease evolution mimicking acute myocarditis: The role of cardiovascular magnetic resonance imaging
Sophie Mavrogeni et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy A Practical Guide for Physicians
Frank I. Marcus et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2013)
Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy-Associated Desmosomal Mutation Carriers
Cynthia A. James et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2013)
A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females
Wenting Chen et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2013)
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
Giovanni Quarta et al.
EUROPEAN HEART JOURNAL (2012)
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
Paul A. van der Zwaag et al.
EUROPEAN JOURNAL OF HEART FAILURE (2012)
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
Carola Hedberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease
Sophie Mavrogeni et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)
Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the hot phase of the disease?
A. P. Patrianakos et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)
Loss of αT-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia
Jifen Li et al.
JOURNAL OF CELL SCIENCE (2012)
Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
Nadine Norton et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study
Moniek G. P. J. Cox et al.
CIRCULATION (2011)
Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes
Matthew Taylor et al.
CIRCULATION (2011)
Altered Desmosomal Proteins in Granulomatous Myocarditis and Potential Pathogenic Links to Arrhythmogenic Right Ventricular Cardiomyopathy
Angeliki Asimaki et al.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2011)
Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry
Bruno Pinamonti et al.
EUROPEAN HEART JOURNAL (2011)
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
Takuro Arimura et al.
HUMAN MUTATION (2011)
SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism
William P. McNair et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
MECHANISMS OF DISEASE Inherited Cardiomyopathies
Hugh Watkins et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Some Previously Neglected Examples of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and Frequency of Its Various Reported Manifestations
William Clifford Roberts et al.
AMERICAN JOURNAL OF CARDIOLOGY (2010)
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification of the Task Force Criteria
Frank I. Marcus et al.
CIRCULATION (2010)
The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies From Gene to Disease
Mario Delmar et al.
CIRCULATION RESEARCH (2010)
Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia
Maria E. Campian et al.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING (2010)
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
Baerbel Klauke et al.
HUMAN MOLECULAR GENETICS (2010)
NKX2-5: An Update on this Hypermutable Homeodomain Protein and its Role in Human Congenital Heart Disease (CHD)
Stella Marie Reamon-Buettner et al.
HUMAN MUTATION (2010)
Divergent Molecular Effects of Desmin Mutations on Protein Assembly in Myofibrillar Myopathy
Johannes Levin et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2010)
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
J. Peter van Tintelen et al.
HEART RHYTHM (2009)
Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
Katharine M. Brauch et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)
Arrhythmogenic right ventricular cardiomyopathy
Cristina Basso et al.
LANCET (2009)
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
Nancy D. Merner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Left-Dominant Arrhythmogenic Cardiomyopathy
Srijita Sen-Chowdhry et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2008)
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies
Katharina Strach et al.
NEUROMUSCULAR DISORDERS (2008)
Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases
Perry Elliott et al.
EUROPEAN HEART JOURNAL (2008)
Expanding spectrum of human RYR2-related disease -: New electrocardiographic, structural, and genetic features
Zahurul A. Bhuiyan et al.
CIRCULATION (2007)
A unique and specific interaction between αT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs
Steven Goossens et al.
JOURNAL OF CELL SCIENCE (2007)
Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy
Prince J. Kannankeril et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Contemporary definitions and classification of the cardiomyopathies - An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
BJ Maron et al.
CIRCULATION (2006)
Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
G Beffagna et al.
CARDIOVASCULAR RESEARCH (2005)
The giant protein titin - A major player in myocardial mechanics, signaling, and disease
HL Granzier et al.
CIRCULATION RESEARCH (2004)
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy
N Protonotarios et al.
CARDIOVASCULAR PATHOLOGY (2004)
Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle
D Paulin et al.
EXPERIMENTAL CELL RESEARCH (2004)
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
R Alcalai et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Left side right ventricular cardiomyopathy
M Michalodimitrakis et al.
MEDICINE SCIENCE AND THE LAW (2002)
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
N Tiso et al.
HUMAN MOLECULAR GENETICS (2001)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
EE Norgett et al.
HUMAN MOLECULAR GENETICS (2000)
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
G McKoy et al.
LANCET (2000)