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Scientific Reports|May 16, 2024
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distributionOzan Ozisik, Svetlana Gorokhova, Mathieu Cerino, et al.
Molecular Medicine (Cambridge, Mass.)|May 11, 2011
Translational research and therapeutic perspectives in dysferlinopathiesFlorian Barthélémy, Nicolas Wein, Martin Krahn, et al.
Molecular and Cellular Biology|December 4, 2003
Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal componentsMathieu Taveau, Nathalie Bourg, Guillaume Sillon, et al.
Journal of Molecular Biology|January 25, 2005
Imaging calpain protease activity by multiphoton FRET in living miceDaniel Stockholm, Marc Bartoli, Guillaume Sillon, et al.
Circulation|August 3, 2013
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophyCarinne Roudaut, Florence Le Roy, Laurence Suel, et al.
Human Mutation|November 19, 2011
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modificationsTayebeh Soheili, Evelyne Gicquel, Jérôme Poupiot, et al.
Nucleic Acids Research|June 4, 2018
VarAFT: a variant annotation and filtration system for human next generation sequencing dataJean-Pierre Desvignes, Marc Bartoli, Valérie Delague, et al.
Frontiers in Cell and Developmental Biology|December 10, 2021
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte FunctionsOcéane Ballouhey, Sébastien Courrier, Virginie Kergourlay, et al.
The FEBS Journal|January 16, 2009
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodellingLydie Laure, Laurence Suel, Carinne Roudaut, et al.
Human Mutation|October 15, 2014
Identification of splicing defects caused by mutations in the dysferlin geneVirginie Kergourlay, Ghadi Raï, Gaëlle Blandin, et al.
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