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Scientific Reports|April 12, 2020
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reportsMark Gorokhov, Mathieu Cerino, Jérémie Mortreux, et al.Neurobiology of Disease|December 16, 2016
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndromeValerie Matagne, Yann Ehinger, Lydia Saidi, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|December 14, 2006
Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vectorFrancoise Fougerousse, Marc Bartoli, Jérôme Poupiot, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV VectorFrancoise Fougerousse, Marc Bartoli, Jérôme Poupiot, et al.Human Mutation|July 16, 2020
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assayEugénie Dionnet, Aurélia Defour, Nathalie Da Silva, et al.Applied & Translational Genomics|April 8, 2016
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disordersSvetlana Gorokhova, Mathieu Cerino, Yves Mathieu, et al.Physiological Reports|May 25, 2019
Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivoJulie Warnez-Soulie, Michael Macia, Sophie Lac, et al.Biomedicines|May 27, 2023
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of DysferlinopathyOcéane Ballouhey, Marie Chapoton, Benedicte Alary, et al.The Journal of Biological Chemistry|October 24, 2006
A mouse model for monitoring calpain activity under physiological and pathological conditionsMarc Bartoli, Nathalie Bourg, Daniel Stockholm, et al.Human Molecular Genetics|February 16, 2010
Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transferWilliam Lostal, Marc Bartoli, Nathalie Bourg, et al.Pageof 8