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Pascale Guicheney

Showing results (21-30 of 121) with videos related to

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Frontiers in Physiology|June 14, 2021
<i>In vivo</i> Dominant-Negative Effect of an <i>SCN5A</i> Brugada Syndrome VariantNicolas Doisne, Marta Grauso, Nathalie Mougenot, et al.
Genetic Testing|October 24, 2007
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA levelOlfa Siala, Nacim Louhichi, Chahnez Triki, et al.
BMC Developmental Biology|August 25, 2009
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursorsPerrine Castets, Svetlana Maugenre, Corine Gartioux, et al.
Neuromuscular Disorders : NMD|September 5, 2002
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh, et al.
Scientific Reports|March 5, 2021
A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointesZahia Touat-Hamici, Malorie Blancard, Ruifang Ma, et al.
Neuromuscular Disorders : NMD|March 1, 2003
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain geneSylvie Besse, Valérie Allamand, Jean-Thomas Vilquin, et al.
American Journal of Human Genetics|May 7, 2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir, Patrizia Sabatelli, Valérie Allamand, et al.
Journal of Molecular and Cellular Cardiology|December 5, 2003
A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivationDagmar I Keller, Said Acharfi, Etienne Delacrétaz, et al.
Journal of the American College of Cardiology|March 5, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutationsJean-Marc Lupoglazoff, Isabelle Denjoy, Elisabeth Villain, et al.
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|December 25, 2007
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseasesIsabelle Six, Jean-Sylvain Hermida, Hai Huang, et al.
Pageof 13

Showing results (21-30 of 121) with videos related to

Sort By:
Pageof 13
Frontiers in Physiology|June 14, 2021
<i>In vivo</i> Dominant-Negative Effect of an <i>SCN5A</i> Brugada Syndrome VariantNicolas Doisne, Marta Grauso, Nathalie Mougenot, et al.
Genetic Testing|October 24, 2007
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA levelOlfa Siala, Nacim Louhichi, Chahnez Triki, et al.
BMC Developmental Biology|August 25, 2009
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursorsPerrine Castets, Svetlana Maugenre, Corine Gartioux, et al.
Neuromuscular Disorders : NMD|September 5, 2002
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh, et al.
Scientific Reports|March 5, 2021
A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointesZahia Touat-Hamici, Malorie Blancard, Ruifang Ma, et al.
Neuromuscular Disorders : NMD|March 1, 2003
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain geneSylvie Besse, Valérie Allamand, Jean-Thomas Vilquin, et al.
American Journal of Human Genetics|May 7, 2002
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir, Patrizia Sabatelli, Valérie Allamand, et al.
Journal of Molecular and Cellular Cardiology|December 5, 2003
A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivationDagmar I Keller, Said Acharfi, Etienne Delacrétaz, et al.
Journal of the American College of Cardiology|March 5, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutationsJean-Marc Lupoglazoff, Isabelle Denjoy, Elisabeth Villain, et al.
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|December 25, 2007
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseasesIsabelle Six, Jean-Sylvain Hermida, Hai Huang, et al.
Pageof 13