Associated Papers
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Noteworthy phenomena in pediatric inherited cardiomyopathy.
Jiang JH et al.
World Journal of Pediatrics : Wjp, 2024
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.
Jin Y et al.
Frontiers in Cardiovascular Medicine, 2024
Human Genetics of Ventricular Septal Defect.
Perrot A et al.
Advances in Experimental Medicine and Biology, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study.
Holmstrom L et al.
Circulation. Genomic and Precision Medicine, 2023
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.
Ishida H et al.
Circulation. Genomic and Precision Medicine, 2023
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Martinez-Barrios E et al.
International Journal of Legal Medicine, 2023
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.
Mehaney DA et al.
Cardiology in the Young, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient.
Ji L et al.
Frontiers in Cardiovascular Medicine, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Investigation of de novo variation in pediatric cardiomyopathy.
Parrott A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.
Luo Q et al.
Scientific Reports, 2020
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
Pantou MP et al.
Bmc Medical Genetics, 2019
Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.
Maurizi N et al.
Jama Cardiology, 2018
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy.
Ding WH et al.
Chinese Medical Journal, 2017
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
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
Troponins, intrinsic disorder, and cardiomyopathy.
Na I et al.
Biological Chemistry, 2016
The functional significance of the last 5 residues of the C-terminus of cardiac troponin I.
Gilda JE et al.
Archives of Biochemistry and Biophysics, 2016
Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.
Nguyen S et al.
Frontiers in Physiology, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene.
Chen Y et al.
Journal of Biomedical Research, 2014
Troponin Mutation Caused Diastolic Dysfunction and Experimental Treatment in Transgenic Mice with Cardiomyopathy.
Xu Y et al.
Gstf Journal of Advances in Medical Research, 2014
[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].
Yang SW et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2013
Inherited cardiomyopathies caused by troponin mutations.
Lu QW et al.
Journal of Geriatric Cardiology : Jgc, 2013
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier.
Yang SW et al.
Cardiology in the Young, 2010
Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
Willott RH et al.
Journal of Molecular and Cellular Cardiology, 2010
Cardiac troponin mutations and restrictive cardiomyopathy.
Parvatiyar MS et al.
Journal of Biomedicine & Biotechnology, 2010
Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray.
Gambarin FI et al.
Heart (british Cardiac Society), 2008
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
Doolan A et al.
Journal of Molecular and Cellular Cardiology, 2005
Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy.
Kane DA et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0