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Isabelle Marty

Showing results (51-60 of 65) with videos related to

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EMBO Molecular Medicine|September 30, 2014
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathySestina Falcone, William Roman, Karim Hnia, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 ProteinMarine Cacheux, Ariane Blum, Muriel Sébastien, et al.
The Journal of Biological Chemistry|July 19, 2003
Critical amino acid residues determine the binding affinity and the Ca2+ release efficacy of maurocalcine in skeletal muscle cellsEric Estève, Sophia Smida-Rezgui, Sandor Sarkozi, et al.
Human Gene Therapy|June 29, 2013
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathyJohn Rendu, Julie Brocard, Eric Denarier, et al.
Elife|April 21, 2023
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiationEline Lemerle, Jeanne Lainé, Marion Benoist, et al.
Acta Neuropathologica Communications|November 12, 2020
In vivo RyR1 reduction in muscle triggers a core-like myopathyLaurent Pelletier, Anne Petiot, Julie Brocard, et al.
Acta Neuropathologica Communications|January 7, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathiesMatteo Garibaldi, John Rendu, Julie Brocard, et al.
Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.
Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Pageof 7

Showing results (51-60 of 65) with videos related to

Sort By:
Pageof 7
EMBO Molecular Medicine|September 30, 2014
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathySestina Falcone, William Roman, Karim Hnia, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 ProteinMarine Cacheux, Ariane Blum, Muriel Sébastien, et al.
The Journal of Biological Chemistry|July 19, 2003
Critical amino acid residues determine the binding affinity and the Ca2+ release efficacy of maurocalcine in skeletal muscle cellsEric Estève, Sophia Smida-Rezgui, Sandor Sarkozi, et al.
Human Gene Therapy|June 29, 2013
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathyJohn Rendu, Julie Brocard, Eric Denarier, et al.
Elife|April 21, 2023
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiationEline Lemerle, Jeanne Lainé, Marion Benoist, et al.
Acta Neuropathologica Communications|November 12, 2020
In vivo RyR1 reduction in muscle triggers a core-like myopathyLaurent Pelletier, Anne Petiot, Julie Brocard, et al.
Acta Neuropathologica Communications|January 7, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathiesMatteo Garibaldi, John Rendu, Julie Brocard, et al.
Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.
Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Pageof 7