Associated Papers
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
Arvio M et al.
Case Reports in Genetics, 2023
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.
Osman J et al.
Journal of Biomedical Science, 2019
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
Hall CL et al.
European Journal of Human Genetics : Ejhg, 2018
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.
Junttila MJ et al.
Circulation, 2018
Arrhythmogenic cardiomyopathy: Identification of desmosomal gene variations and desmosomal protein expression in variation carriers.
Wang L et al.
Experimental and Therapeutic Medicine, 2018
Pleiotropic Phenotypes Associated With PKP2 Variants.
Novelli V et al.
Frontiers in Cardiovascular Medicine, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.
Lahtinen AM et al.
Annals of Medicine, 2013
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Kirchner F et al.
Circulation. Cardiovascular Genetics, 2012
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
Lahtinen AM et al.
Heart Rhythm, 2011
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?
Christensen AH et al.
Cardiology, 2010
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.
Lahtinen AM et al.
International Journal of Cardiology, 2008