Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

scientific article

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/EUROPACE/EUU128
P698PubMed publication ID24938629

P50authorLorenzo MonserratQ42794375
Mariano Valdés ChávarriQ102078444
Francisco Ruiz-EspejoQ117261821
P2093author name stringJosefa González-Carrillo
Juan R Gimeno
Juan José Sánchez Muñoz
David López-Cuenca
Ivan Gómez-Milanés
Jose María López-Ayala
M J Oliva-Sandoval
Martín Ortíz
P2860cites workRole of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathyQ24299388
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Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practiceQ28279991
Sudden cardiac death in young people with apparently normal heartQ33146371
Dispersion of ventricular depolarization-repolarization: a noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathyQ33146513
Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.Q33150735
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutationsQ33152773
Fragmented and delayed electrograms within fibrofatty scar predict arrhythmic events in arrhythmogenic right ventricular cardiomyopathy: results from a prospective risk stratification study.Q33161166
Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.Q33162348
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.Q33547357
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force CriteriaQ33764619
Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?Q34395507
ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with theQ34640762
Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathyQ35382044
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathyQ36330386
Differentiation of heart failure related to dilated cardiomyopathy and coronary artery disease using gadolinium-enhanced cardiovascular magnetic resonanceQ38520098
Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathyQ43615832
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathyQ46630214
Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasiaQ48000354
Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients.Q51704331
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.Q51772909
P433issue12
P921main subjectcardiomyopathyQ847583
P304page(s)1838-1846
P577publication date2014-06-17
P1433published inEP EuropaceQ2596718
P1476titleDesmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype
P478volume16

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cites work (P2860)
Q89951257A mutation update for the FLNC gene in myopathies and cardiomyopathies
Q49464137Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Cardiovascular Diseases: A Literature Review
Q33167672Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes
Q92740412Arrhythmogenic Left Ventricular Cardiomyopathy: A Clinical and CMR Study
Q90577852Arrhythmogenic left ventricular cardiomyopathy
Q89471253DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Q64883533Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43.
Q27013675Desmosome regulation and signaling in disease
Q64944906Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy.
Q58121782Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy
Q93094672Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Q41776920Nature and Nurture in Arrhythmogenic Right Ventricular Cardiomyopathy - A Clinical Perspective
Q89661633Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy
Q38922797Pathophysiology of the Desmo-Adhesome
Q92718026Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation
Q38666336Precision medicine approach to genetic cardiomyopathy
Q97548546Sudden Cardiac Death Prediction in Non-ischemic Dilated Cardiomyopathy: a Multiparametric and Dynamic Approach
Q64230001Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy

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