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Pascale Guicheney

Showing results (51-60 of 121) with videos related to

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Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|March 3, 2012
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probandsMiyuki Hayashi, Isabelle Denjoy, Meiso Hayashi, et al.
Cardiovascular Research|June 15, 2004
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutantLaetitia Gouas, Chloe Bellocq, Myriam Berthet, et al.
The Journal of Biological Chemistry|August 21, 2014
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesKei-ichiro Inamori, Tobias Willer, Yuji Hara, et al.
Annals of Neurology|December 21, 2005
SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke, Warren Kidson, Susana Quijano-Roy, et al.
Neurogenetics|December 4, 2003
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi, Chahnez Triki, Susana Quijano-Roy, et al.
Human Mutation|September 3, 2011
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbancesBirgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, et al.
Circulation Research|October 19, 2002
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardiaAlex V Postma, Isabelle Denjoy, Theo M Hoorntje, et al.
Journal of Cellular Physiology|June 21, 2005
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domainsStefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, et al.
Human Mutation|April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Human Molecular Genetics|September 23, 2010
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in miceAnne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, et al.
Pageof 13

Showing results (51-60 of 121) with videos related to

Sort By:
Pageof 13
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|March 3, 2012
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probandsMiyuki Hayashi, Isabelle Denjoy, Meiso Hayashi, et al.
Cardiovascular Research|June 15, 2004
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutantLaetitia Gouas, Chloe Bellocq, Myriam Berthet, et al.
The Journal of Biological Chemistry|August 21, 2014
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissuesKei-ichiro Inamori, Tobias Willer, Yuji Hara, et al.
Annals of Neurology|December 21, 2005
SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke, Warren Kidson, Susana Quijano-Roy, et al.
Neurogenetics|December 4, 2003
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi, Chahnez Triki, Susana Quijano-Roy, et al.
Human Mutation|September 3, 2011
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbancesBirgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, et al.
Circulation Research|October 19, 2002
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardiaAlex V Postma, Isabelle Denjoy, Theo M Hoorntje, et al.
Journal of Cellular Physiology|June 21, 2005
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domainsStefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, et al.
Human Mutation|April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Human Molecular Genetics|September 23, 2010
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in miceAnne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, et al.
Pageof 13