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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser
Alice Maltret
,
Fatima Azzahrae Benaich
,
John Rendu
,
Véronique Fressart
,
Nathalie Roux-Buisson
,
et al.
Journal articles
hal-04006403v1
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Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
Meiso Hayashi
,
Isabelle Denjoy
,
Fabrice Extramiana
,
Alice Maltret
,
Nathalie Roux Buisson
,
et al.
Journal articles
inserm-00410301v1
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Celine Bordet
,
Sandrine Brice
,
Carole Maupain
,
Estelle Gandjbakhch
,
Bertrand Isidor
,
et al.
Journal articles
hal-02882035v1
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Salbutamol Worsens the Autonomic Nervous System Dysfunction of Children With Sickle Cell Disease
Plamen Bokov
,
Houmam El Jurdi
,
Isabelle Denjoy
,
Claudine Peiffer
,
Noria Medjahdi
,
et al.
Journal articles
hal-04006390v1
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A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response
Malorie Blancard
,
Zahia Touat-Hamici
,
Yuriana Aguilar-Sanchez
,
Liheng Yin
,
Guy Vaksmann
,
et al.
Journal articles
hal-03342611v1
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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser
Alice Maltret
,
Fatima Azzahrae Benaich
,
John Rendu
,
Véronique Fressart
,
Nathalie Roux-Buisson
,
et al.
Journal articles
hal-03417239v1
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Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
Nathalie Roux-Buisson
,
Grégory Egéa
,
Isabelle Denjoy
,
Pascale Guicheney
,
Joel Lunardi
Journal articles
inserm-00639628v1
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A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response
Malorie Blancard
,
Zahia Touat-Hamici
,
Yuriana Aguilar-Sanchez
,
Liheng Yin
,
Guy Vaksmann
,
et al.
Journal articles
hal-03278104v1
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Deep learning analysis of ECG for risk prediction of drug-induced arrhythmias and diagnosis of long QT syndrome
Edi Prifti
,
Ahmad Fall
,
Giovanni Davogustto
,
Alfredo Pulini
,
Isabelle Denjoy
,
et al.
Journal articles
hal-03477972v1
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Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis
Flavie Ader
,
Elodie Surget
,
Philippe Charron
,
Alban Redheuil
,
Amir Zouaghi
,
et al.
Journal articles
inserm-03996719v1
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SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
Yanushi D Wijeyeratne
,
Michael Tanck
,
Yuka Mizusawa
,
Velislav Batchvarov
,
Julien Barc
,
et al.
Journal articles
hal-03099541v1
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Gender differences in patients with Brugada syndrome and arrhythmic events: Data from a survey on arrhythmic events in 678 patients
Anat Milman
,
Jean-Baptiste Gourraud
,
Antoine Andorin
,
Pieter Postema
,
Frederic Sacher
,
et al.
Journal articles
hal-04073990v1
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A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes
Zahia Touat-Hamici
,
Malorie Blancard
,
Ruifang Ma
,
Lianyun Lin
,
Yasmine Iddir
,
et al.
Journal articles
hal-03162735v1
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Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Nathalie Roux-Buisson
,
John Rendu
,
Isabelle Denjoy
,
Pascale Guicheney
,
Alice Goldenberg
,
et al.
Journal articles
istex
inserm-00644146v1
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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
Najim Lahrouchi
,
Rafik Tadros
,
Lia Crotti
,
Yuka Mizusawa
,
Pieter G Postema
,
et al.
Journal articles
inserm-04021339v1
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The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.
Miyuki Hayashi
,
Isabelle Denjoy
,
Meiso Hayashi
,
Fabrice Extramiana
,
Alice Maltret
,
et al.
Journal articles
inserm-00905386v1
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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Nathalie Roux-Buisson
,
Marine Cacheux
,
Anne Fourest-Lieuvin
,
J. Fauconnier
,
Julie Brocard
,
et al.
Journal articles
inserm-00763211v1
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A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity
Barbara Oliveira-Mendes
,
Sylvain Feliciangeli
,
Mélissa Ménard
,
Frank Chatelain
,
Malak Alameh
,
et al.
Journal articles
hal-03797256v1
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Clinical and Translational Physiology, a section of the journal Frontiers in Physiology
Plamen Bokov
,
Houmam El Jurdi
,
Isabelle Denjoy
,
Claudine Peiffer
,
Noria Medjahdi
,
et al.
Journal articles
hal-02947866v1
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