Karine Charton
Evry, France
Last Updated: 09/26/2026
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Found 15 publications
Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits.
Journal: Journal of neuromuscular diseases
Published: October 11, 2021
Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair.
Journal: The Journal of cell biology
Published: June 06, 2020
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Journal: Science translational medicine
Published: January 30, 2019
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Journal: Neuropathology and applied neurobiology
Published: March 17, 2017
AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.
Journal: Human molecular genetics
Published: December 07, 2016
Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.
Journal: Human molecular genetics
Published: May 13, 2016
Circulating miRNAs are generic and versatile therapeutic monitoring biomarkers in muscular dystrophies.
Journal: Scientific reports
Published: February 09, 2016
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Journal: Neurology
Published: June 02, 2015
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Journal: Human molecular genetics
Published: January 22, 2015
A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence.
Journal: Molecular therapy. Methods & clinical development
Published: June 26, 2014
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy.
Journal: Circulation
Published: August 03, 2013
Last Updated: 09/26/2026