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Isabelle Pénisson-Besnier

Showing results (1-10 of 16) with videos related to

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Neuromuscular Disorders : NMD|March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological studyIsabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
Acta Neuropathologica|February 24, 2012
A myopathy-related actin mutation increases contractile functionJohan Lindqvist, Isabelle Pénisson-Besnier, Hiroyuki Iwamoto, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndromeIsabelle Pénisson-Besnier, Thibaud Lebouvier, Marie-Pierre Moizard, et al.
Neuromuscular Disorders : NMD|June 24, 2006
Myotilinopathy in a family with late onset myopathyIsabelle Pénisson-Besnier, Kati Talvinen, Catherine Dumez, et al.
Human Molecular Genetics|July 17, 2012
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanismsJulien Ochala, David S Gokhin, Isabelle Pénisson-Besnier, et al.
Human Molecular Genetics|May 17, 2012
Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylationChristel Gentil, France Leturcq, Rabah Ben Yaou, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 26, 2011
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathyJulien Ochala, Vilma-Lotta Lehtokari, Hiroyuki Iwamoto, et al.
Journal of Medical Genetics|October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencingKaren Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.
Neuromuscular Disorders : NMD|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Neuromuscular Disorders : NMD|March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological studyIsabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Neuromuscular Disorders : NMD|January 26, 2007
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic studyIsabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, et al.
Acta Neuropathologica|February 24, 2012
A myopathy-related actin mutation increases contractile functionJohan Lindqvist, Isabelle Pénisson-Besnier, Hiroyuki Iwamoto, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndromeIsabelle Pénisson-Besnier, Thibaud Lebouvier, Marie-Pierre Moizard, et al.
Neuromuscular Disorders : NMD|June 24, 2006
Myotilinopathy in a family with late onset myopathyIsabelle Pénisson-Besnier, Kati Talvinen, Catherine Dumez, et al.
Human Molecular Genetics|July 17, 2012
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanismsJulien Ochala, David S Gokhin, Isabelle Pénisson-Besnier, et al.
Human Molecular Genetics|May 17, 2012
Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylationChristel Gentil, France Leturcq, Rabah Ben Yaou, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 26, 2011
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathyJulien Ochala, Vilma-Lotta Lehtokari, Hiroyuki Iwamoto, et al.
Journal of Medical Genetics|October 9, 2010
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencingKaren Gaudon, Isabelle Pénisson-Besnier, Brigitte Chabrol, et al.
Neuromuscular Disorders : NMD|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Pageof 2