Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Pascale Guicheney

Showing results (81-90 of 121) with videos related to

Pageof 13
Sort By:
The Journal of Clinical Investigation|February 9, 2016
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesisErik Schoenmakers, Bradley Carlson, Maura Agostini, et al.
Journal of Cardiovascular Electrophysiology|January 29, 2013
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillationDaniel C Bartos, Jeffrey B Anderson, Rachel Bastiaenen, et al.
Circulation|January 24, 2007
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytesPeter J Mohler, Solena Le Scouarnec, Isabelle Denjoy, et al.
Annals of Neurology|July 12, 2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro, Nicole Monnier, Norma B Romero, et al.
Human Molecular Genetics|August 23, 2006
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilonChi-un Choe, Eric Schulze-Bahr, Axel Neu, et al.
Heart Rhythm|October 21, 2016
A type 2 ryanodine receptor variant associated with reduced Ca<sup>2+</sup> release and short-coupled torsades de pointes ventricular arrhythmiaYusuke Fujii, Hideki Itoh, Seiko Ohno, et al.
Neuromuscular Disorders : NMD|October 16, 2004
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The NetherlandsHeinz Jungbluth, Alan Beggs, Carsten Bönnemann, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.
Scientific Reports|July 6, 2017
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cellsArlek M González-Jamett, Ximena Baez-Matus, María José Olivares, et al.
Pageof 13

Showing results (81-90 of 121) with videos related to

Sort By:
Pageof 13
The Journal of Clinical Investigation|February 9, 2016
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesisErik Schoenmakers, Bradley Carlson, Maura Agostini, et al.
Journal of Cardiovascular Electrophysiology|January 29, 2013
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillationDaniel C Bartos, Jeffrey B Anderson, Rachel Bastiaenen, et al.
Circulation|January 24, 2007
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytesPeter J Mohler, Solena Le Scouarnec, Isabelle Denjoy, et al.
Annals of Neurology|July 12, 2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro, Nicole Monnier, Norma B Romero, et al.
Human Molecular Genetics|August 23, 2006
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilonChi-un Choe, Eric Schulze-Bahr, Axel Neu, et al.
Heart Rhythm|October 21, 2016
A type 2 ryanodine receptor variant associated with reduced Ca<sup>2+</sup> release and short-coupled torsades de pointes ventricular arrhythmiaYusuke Fujii, Hideki Itoh, Seiko Ohno, et al.
Neuromuscular Disorders : NMD|October 16, 2004
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The NetherlandsHeinz Jungbluth, Alan Beggs, Carsten Bönnemann, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.
Scientific Reports|July 6, 2017
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cellsArlek M González-Jamett, Ximena Baez-Matus, María José Olivares, et al.
Pageof 13