Lista de obras - Julien Barc - Dominio Público Uruguay

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

artículo científico publicado en 2021

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

artículo científico publicado en 2015

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

artículo científico publicado en 2013

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

artículo científico publicado en 2017

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genome-wide association studies: providers of candidate genes for identification of rare variants?

scientific article published on 23 March 2011

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

artículo científico publicado en 2014

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

artículo científico publicado en 2012

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

artículo científico publicado en 2012

Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-Arat model

artículo científico publicado en 2022

PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

artículo científico publicado en 2014

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

artículo científico publicado en 2015

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

artículo científico publicado en 2017

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

artículo científico publicado en 2015

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

artículo científico publicado en 2009

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

artículo científico publicado en 2011

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

artículo científico publicado en 2016

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

artículo científico publicado en 2016

Value of the sodium-channel blocker challenge in Brugada syndrome

artículo científico

hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities

artículo científico publicado en 2016

Lista de obras de Julien Barc

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genome-wide association studies: providers of candidate genes for identification of rare variants?

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-Arat model

PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Sudden Cardiac Arrest and Rare Genetic Variants in the Community.

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

Value of the sodium-channel blocker challenge in Brugada syndrome

hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities