Associated Papers
Autosomal Recessive Atrial Dilated Cardiomyopathy Due to NPPA Mutation in a Young Patient.
Marini M et al.
Journal of Cardiovascular Development and Disease, 2026
Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications.
Carella MC et al.
Journal of Clinical Medicine, 2025
NPPA-Associated Atrial Dilated Cardiomyopathy: Genotypic and Phenotypic Insights From an Ultrarare Inherited Disorder.
Forleo C et al.
Jacc. Case Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy.
Silva Cunha P et al.
Frontiers in Cardiovascular Medicine, 2023
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
Inherited bradyarrhythmia: A diverse genetic background.
Ishikawa T et al.
Journal of Arrhythmia, 2016
Electroanatomic mapping and late gadolinium enhancement MRI in a genetic model of arrhythmogenic atrial cardiomyopathy.
Disertori M et al.
Journal of Cardiovascular Electrophysiology, 2014
Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A.
Disertori M et al.
Circulation. Cardiovascular Genetics, 2013
Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.
Shathasivam T et al.
Journal of Cellular and Molecular Medicine, 2010
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