An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, +26

Heart Rhythm

ChannelopathiesCardiomyopathyGenetic DisorderGeneticsPhysiology +5

Ionic Mechanisms Responsible for the Electrocardiographic Phenotype of the Brugada Syndrome Are Temperature Dependent

Robert Dumaine, Jeffrey A. Towbin, Pedro Brugada, +6

Circulation Research

Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome

Matteo Vatta, Michael J. Ackerman, Bin Ye, +9

Circulation

Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

Shinichi Tsubata, Karla R. Bowles, Matteo Vatta, +5

Journal of Clinical Investigation

Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

J. Martijn Bos, Rainer N. Poley, Melissa Ny, +7

Molecular Genetics and Metabolism

Cardiac MuscleGenotype–phenotype RelationshipsCardiomyopathyGeneticsPhysiology +5

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy

Matteo Vatta, Sonny J. Stetson, Alejandro Perez‐Verdia, +5

The Lancet

Cardiac MuscleCardiomyopathyHeart FailureUrologyStructural Heart Disease +6

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

Lia Crotti, Carla Spazzolini, David J. Tester, +38

European Heart Journal

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

Jelena Milas̆in, Francesco Muntoni, Giovanni Maria Severini, +9

Human Molecular Genetics

Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group.

Maja Krajinović, Bruno Pinamonti, Gianfranco Sinagra, +7

PubMed

α-1-Syntrophin Mutation and the Long-QT Syndrome

Geru Wu, Tomohiko Ai, Jeffrey J. Kim, +13

Circulation Arrhythmia and Electrophysiology