Lista de obras -

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation

artículo científico publicado en 2014

A challenge for mutation specific risk stratification in long QT syndrome type 1.

artículo científico publicado en 2018

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

artículo científico publicado en 2018

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

scientific article published on 31 March 2018

An NGS-based genotyping in LQTS; minor genes are no longer minor

artículo científico publicado en 2020

Association of zygotic piRNAs derived from paternal P elements with hybrid dysgenesis in Drosophila melanogaster

artículo científico publicado en 2018

Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

artículo científico publicado en 2018

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

scientific article published on 01 September 2019

Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters

scientific article published on 01 November 2018

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry

scientific article published on 04 August 2018

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

Copy Number Variations of SCN5A in Brugada Syndrome. SCN5A CNVs in BrS.

artículo científico publicado en 2018

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1　- Modified Schwartz Score

artículo científico publicado en 2018

Electrical storm in an infant with short-coupled variant of torsade de pointes.

artículo científico publicado en 2018

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

artículo científico publicado en 2020

Genetic variants of alcohol-metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol

artículo científico publicado en 2019

Home blood pressure variability and subclinical atherosclerosis in multiple vascular beds: a population-based study

artículo científico publicado en 2018

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders

artículo científico publicado en 2009

Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation

artículo científico publicado en 2018

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

artículo científico publicado en 2020

Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations.

artículo científico publicado en 2018

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

artículo científico publicado en 2016

Lista de obras de

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation

A challenge for mutation specific risk stratification in long QT syndrome type 1.

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

An NGS-based genotyping in LQTS; minor genes are no longer minor

Association of zygotic piRNAs derived from paternal P elements with hybrid dysgenesis in Drosophila melanogaster

Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

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

Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry

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

Copy Number Variations of SCN5A in Brugada Syndrome. SCN5A CNVs in BrS.

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 - Modified Schwartz Score

Electrical storm in an infant with short-coupled variant of torsade de pointes.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Genetic variants of alcohol-metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol

Home blood pressure variability and subclinical atherosclerosis in multiple vascular beds: a population-based study

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders

Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations.

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1　- Modified Schwartz Score