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Isabelle Marty

Showing results (41-50 of 65) with videos related to

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Brain : a Journal of Neurology|March 16, 2012
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathyJames J Dowling, Sandrine Arbogast, Junguk Hur, et al.
Human Mutation|May 28, 2011
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical managementNathalie Roux-Buisson, John Rendu, Isabelle Denjoy, et al.
Journal of Neuromuscular Diseases|June 25, 2025
Expanding the spectrum of <i>TNNC2</i> variants in neonatal hypotonia - a family report of a homozygous loss of functionAnthony Maino, Marie Chevallier, Diane Giovannini, et al.
Stem Cell Reports|May 10, 2023
Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytesDaniel J Clemens, Dan Ye, Lili Wang, et al.
The Journal of General Physiology|November 21, 2022
Huntingtin regulates calcium fluxes in skeletal muscleMathilde Chivet, Maximilian McCluskey, Anne Sophie Nicot, et al.
Molecular Therapy. Nucleic Acids|July 29, 2024
Functional benefit of CRISPR-Cas9-induced allele deletion for <i>RYR1</i> dominant mutationMathilde Beaufils, Margaux Melka, Julie Brocard, et al.
The Journal of Biological Chemistry|January 18, 2005
Transduction of the scorpion toxin maurocalcine into cells. Evidence that the toxin crosses the plasma membraneEric Estève, Kamel Mabrouk, Alain Dupuis, et al.
Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.
Journal of Science and Medicine in Sport|May 31, 2020
Variations in the TRPV1 gene are associated to exertional heat strokeCaroline Bosson, John Rendu, Laurent Pelletier, et al.
Skeletal Muscle|September 21, 2018
Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunctionMuriel Sébastien, Benoit Giannesini, Perrine Aubin, et al.
Pageof 7

Showing results (41-50 of 65) with videos related to

Sort By:
Pageof 7
Brain : a Journal of Neurology|March 16, 2012
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathyJames J Dowling, Sandrine Arbogast, Junguk Hur, et al.
Human Mutation|May 28, 2011
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical managementNathalie Roux-Buisson, John Rendu, Isabelle Denjoy, et al.
Journal of Neuromuscular Diseases|June 25, 2025
Expanding the spectrum of <i>TNNC2</i> variants in neonatal hypotonia - a family report of a homozygous loss of functionAnthony Maino, Marie Chevallier, Diane Giovannini, et al.
Stem Cell Reports|May 10, 2023
Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytesDaniel J Clemens, Dan Ye, Lili Wang, et al.
The Journal of General Physiology|November 21, 2022
Huntingtin regulates calcium fluxes in skeletal muscleMathilde Chivet, Maximilian McCluskey, Anne Sophie Nicot, et al.
Molecular Therapy. Nucleic Acids|July 29, 2024
Functional benefit of CRISPR-Cas9-induced allele deletion for <i>RYR1</i> dominant mutationMathilde Beaufils, Margaux Melka, Julie Brocard, et al.
The Journal of Biological Chemistry|January 18, 2005
Transduction of the scorpion toxin maurocalcine into cells. Evidence that the toxin crosses the plasma membraneEric Estève, Kamel Mabrouk, Alain Dupuis, et al.
Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.
Journal of Science and Medicine in Sport|May 31, 2020
Variations in the TRPV1 gene are associated to exertional heat strokeCaroline Bosson, John Rendu, Laurent Pelletier, et al.
Skeletal Muscle|September 21, 2018
Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunctionMuriel Sébastien, Benoit Giannesini, Perrine Aubin, et al.
Pageof 7