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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.Journal of Neuromuscular Diseases|September 14, 2020
Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient ModelCamille Vaubourg, Evelyne Gicquel, Isabelle Richard, 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.International Journal of Paleopathology|March 15, 2018
Glenoid retroversion: The palaeopathological perspectiveYves Darton, Véronique Gallien, Isabelle Richard, et al.Journal of Rehabilitation Medicine|February 28, 2009
Significant recovery of motor function in a patient with complete T7 paraplegia receiving etanerceptMickaël Dinomais, Laura Stana, Guy Egon, et al.Medecine Sciences : M/S|November 18, 2024
[Advances and Challenges in Microdystrophin gene therapy for Duchenne Muscular Dystrophy: progress and future directions]Abbass Jaber, Laura Palmieri, Evelyne Gicquel, et al.Trends in Molecular Medicine|November 13, 2009
RNA-targeting approaches for neuromuscular diseasesFlorence Le Roy, Karine Charton, Christian L Lorson, et al.American Journal of Physiology. Cell Physiology|March 20, 2009
Involvement of calpains in Ca2+-induced disruption of excitation-contraction coupling in mammalian skeletal muscle fibersEsther Verburg, Robyn M Murphy, Isabelle Richard, et al.Pageof 23