Associated Papers
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
Théberge E et al.
Jacc. Case Reports, 2025
PPA2 deficiency-a rare cause of genetic cardiomyopathy: a case report.
Khetrapal S et al.
European Heart Journal. Case Reports, 2025
The crystal structure of yeast mitochondrial type pyrophosphatase provides a model to study pathological mutations in its human ortholog.
Bezpalaya EY et al.
Biochemical and Biophysical Research Communications, 2024
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.
Sambuughin N et al.
International Journal of Molecular Sciences, 2024
Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene.
Manzanilla-Romero HH et al.
European Journal of Pediatrics, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A et al.
Molecular Diagnosis & Therapy, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Gigli M et al.
Circulation, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
Sanford E et al.
Cold Spring Harbor Molecular Case Studies, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
Phoon CKL et al.
Molecular Genetics & Genomic Medicine, 2020
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.
Szczawinska-Poplonyk A et al.
Frontiers in Immunology, 2020
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C et al.
Journal of the American College of Cardiology, 2018
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy H et al.
American Journal of Human Genetics, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Guimier A et al.
American Journal of Human Genetics, 2016
Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings.
Khan FA et al.
Annals of Pediatric Cardiology, 0