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Pascale Guicheney

Showing results (41-50 of 121) with videos related to

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Human Mutation|December 11, 2008
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyBaijayanta Maiti, Sandrine Arbogast, Valérie Allamand, et al.
The Canadian Journal of Cardiology|October 22, 2005
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier stateDagmar I Keller, Fatima-Zahara Barrane, Laetitia Gouas, et al.
EMBO Reports|February 25, 2006
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyValérie Allamand, Pascale Richard, Alain Lescure, et al.
Journal of the American College of Cardiology|May 18, 2004
Hydroquinidine therapy in Brugada syndromeJean-Sylvain Hermida, Isabelle Denjoy, Jérôme Clerc, et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing|April 25, 2013
Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbancesPhilippe Maury, Adrien Moreau, Francoise Hidden-Lucet, et al.
The American Journal of Cardiology|January 27, 2005
Heart rate influences on repolarization duration and morphology in symptomatic versus asymptomatic KCNQ1 mutation carriersFabrice Extramiana, Isabelle Denjoy, Fabio Badilini, et al.
Circulation. Arrhythmia and Electrophysiology|February 28, 2022
Novel <i>CALM3</i> Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation FamilyKoichi Kato, Holly M Isbell, Véronique Fressart, et al.
Annals of Neurology|November 10, 2005
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophyGuglielmina Pepe, Laura Lucarini, Rui-Zhu Zhang, et al.
Frontiers in Physiology|January 8, 2013
Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findingsGuillaume Duthoit, Véronique Fressart, Françoise Hidden-Lucet, et al.
Human Mutation|May 28, 2011
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical managementNathalie Roux-Buisson, John Rendu, Isabelle Denjoy, et al.
Pageof 13

Showing results (41-50 of 121) with videos related to

Sort By:
Pageof 13
Human Mutation|December 11, 2008
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyBaijayanta Maiti, Sandrine Arbogast, Valérie Allamand, et al.
The Canadian Journal of Cardiology|October 22, 2005
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier stateDagmar I Keller, Fatima-Zahara Barrane, Laetitia Gouas, et al.
EMBO Reports|February 25, 2006
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyValérie Allamand, Pascale Richard, Alain Lescure, et al.
Journal of the American College of Cardiology|May 18, 2004
Hydroquinidine therapy in Brugada syndromeJean-Sylvain Hermida, Isabelle Denjoy, Jérôme Clerc, et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing|April 25, 2013
Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbancesPhilippe Maury, Adrien Moreau, Francoise Hidden-Lucet, et al.
The American Journal of Cardiology|January 27, 2005
Heart rate influences on repolarization duration and morphology in symptomatic versus asymptomatic KCNQ1 mutation carriersFabrice Extramiana, Isabelle Denjoy, Fabio Badilini, et al.
Circulation. Arrhythmia and Electrophysiology|February 28, 2022
Novel <i>CALM3</i> Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation FamilyKoichi Kato, Holly M Isbell, Véronique Fressart, et al.
Annals of Neurology|November 10, 2005
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophyGuglielmina Pepe, Laura Lucarini, Rui-Zhu Zhang, et al.
Frontiers in Physiology|January 8, 2013
Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findingsGuillaume Duthoit, Véronique Fressart, Françoise Hidden-Lucet, et al.
Human Mutation|May 28, 2011
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical managementNathalie Roux-Buisson, John Rendu, Isabelle Denjoy, et al.
Pageof 13