De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
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Title
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 19, Issue 23, Pages 4595-4607
Publisher
Oxford University Press (OUP)
Online
2010-09-10
DOI
10.1093/hmg/ddq387
References
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Related references
Note: Only part of the references are listed.- Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment
- (2010) Srijita Sen-Chowdhry et al. Annual Review of Medicine
- Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
- (2010) Veronique Fressart et al. EUROPACE
- The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
- (2010) Marzia De Bortoli et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
- (2010) Ellen Otten et al. HEART RHYTHM
- Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
- (2010) Tianhong Xu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain
- (2010) Luis Vernengo et al. NEUROMUSCULAR DISORDERS
- Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?
- (2009) Alex Hørby Christensen et al. CARDIOLOGY
- Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients
- (2009) Zahurul A. Bhuiyan et al. Circulation-Cardiovascular Genetics
- Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
- (2009) A. Dénise den Haan et al. Circulation-Cardiovascular Genetics
- Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare “disease of the desmosome” with multiple clinical presentations
- (2009) Thomas Herren et al. Clinical Research in Cardiology
- Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
- (2009) J. Peter van Tintelen et al. HEART RHYTHM
- Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
- (2009) Barbara Bauce et al. HEART RHYTHM
- A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
- (2009) Paul A. van der Zwaag et al. HUMAN MUTATION
- Vimentin Coil 1A—A Molecular Switch Involved in the Initiation of Filament Elongation
- (2009) Markus Meier et al. JOURNAL OF MOLECULAR BIOLOGY
- Disease mutations in the “head” domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties
- (2009) Sarika Sharma et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
- (2008) Nancy D. Merner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair
- (2008) M.A. Simpson et al. CARDIOLOGY
- A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
- (2008) Maximilian G. Posch et al. MOLECULAR GENETICS AND METABOLISM
- Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy
- (2008) Maximilian G Posch et al. Nature clinical practice. Cardiovascular medicine
- Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
- (2008) Hendrik Milting et al. Nature clinical practice. Cardiovascular medicine
- Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
- (2008) Mark M Awad et al. Nature clinical practice. Cardiovascular medicine
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