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Pascale Guicheney

Showing results (61-70 of 121) with videos related to

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Circulation Journal : Official Journal of the Japanese Circulation Society|June 30, 2015
A Common Mutation of Long QT Syndrome Type 1 in JapanHideki Itoh, Kenichi Dochi, Wataru Shimizu, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 25, 2019
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynaminTayyibah Ali, Joanna Bednarska, Stéphane Vassilopoulos, et al.
Plos One|August 23, 2011
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathyMathieu Rederstorff, Perrine Castets, Sandrine Arbogast, et al.
American Journal of Physiology. Heart and Circulatory Physiology|May 31, 2003
Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the diseaseAlejandro N Mazzadi, Xavier André-Fouët, Jérôme Duisit, et al.
Scientific Reports|October 4, 2018
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillationMalorie Blancard, Amal Debbiche, Koichi Kato, et al.
Human Molecular Genetics|December 7, 2010
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiencyPerrine Castets, Anne T Bertrand, Maud Beuvin, et al.
EMBO Molecular Medicine|December 17, 2017
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathyDelphine Trochet, Bernard Prudhon, Maud Beuvin, et al.
Brain & Development|December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Annals of Neurology|October 13, 2007
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onsetMarc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, et al.
European Journal of Medical Genetics|January 14, 2009
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardationAkiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, et al.
Pageof 13

Showing results (61-70 of 121) with videos related to

Sort By:
Pageof 13
Circulation Journal : Official Journal of the Japanese Circulation Society|June 30, 2015
A Common Mutation of Long QT Syndrome Type 1 in JapanHideki Itoh, Kenichi Dochi, Wataru Shimizu, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 25, 2019
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynaminTayyibah Ali, Joanna Bednarska, Stéphane Vassilopoulos, et al.
Plos One|August 23, 2011
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathyMathieu Rederstorff, Perrine Castets, Sandrine Arbogast, et al.
American Journal of Physiology. Heart and Circulatory Physiology|May 31, 2003
Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the diseaseAlejandro N Mazzadi, Xavier André-Fouët, Jérôme Duisit, et al.
Scientific Reports|October 4, 2018
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillationMalorie Blancard, Amal Debbiche, Koichi Kato, et al.
Human Molecular Genetics|December 7, 2010
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiencyPerrine Castets, Anne T Bertrand, Maud Beuvin, et al.
EMBO Molecular Medicine|December 17, 2017
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathyDelphine Trochet, Bernard Prudhon, Maud Beuvin, et al.
Brain & Development|December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Annals of Neurology|October 13, 2007
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onsetMarc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, et al.
European Journal of Medical Genetics|January 14, 2009
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardationAkiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, et al.
Pageof 13