Dr Evelyne Gicquel

Camille Vaubourg, Evelyne Gicquel, Isabelle Richard, William Lostal, Jessica Bellec. Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model. Journal of Neuromuscular Diseases, IOS Press, 2021, 8 (5), pp.785-793. ⟨10.3233/JND-200487⟩. ⟨hal-03003866v2⟩

Sara F Henriques, Evelyne Gicquel, Justine Marsolier, Isabelle Richard. Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants. Human Mutation, Wiley, 2019, 40 (10), pp.1874-1885. ⟨10.1002/humu.23827⟩. ⟨hal-02177499⟩

Evelyne Gicquel, Natacha Maizonnier, Steven Foltz, William Martin, Nathalie Bourg, et al.. γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort. Muscle & nerve. Supplement., 2017, 56 (1), pp.129-135. ⟨10.1002/mus.25443⟩. ⟨hal-02333075⟩

Evelyne Gicquel, Natacha Maizonnier, Steven Foltz, William Martin, Nathalie Bourg, et al.. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (10), pp.1952-1965. ⟨10.1093/hmg/ddx066⟩. ⟨hal-02177575⟩

Isabelle Richard, Jean-Pierre Laurent, Sebahattin Cirak, John Vissing, Susan Brown, et al.. 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands. Neuromuscular Disorders, Elsevier, 2016, 26 (10), pp.717-724. ⟨10.1016/j.nmd.2016.08.012⟩. ⟨hal-02333077⟩

Florence Le Roy, Laurence Suel, Jérôme Poupiot, Marc Bartoli, François Monjaret, et al.. The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5. Human gene therapy. Clinical development, New Rochelle, NY : Mary Ann Liebert Inc. publishers, 2013-, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩. ⟨hal-02336935⟩

Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, et al.. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.. Skeletal Muscle, BioMed Central, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩. ⟨inserm-00805816⟩

Tayebeh Soheili, Evelyne Gicquel, Jérôme Poupiot, Luu N'Guyen, Florence Le Roy, et al.. Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications. Human Mutation, Wiley, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩. ⟨hal-01610024⟩

Karine Charton, Nathalie Danièle, Anna Vihola, Carinne Roudaut, Evelyne Gicquel, et al.. Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩. ⟨hal-02321460⟩

Beatrice Benayoun, Stephen Baghdiguian, Alicia Lajmanovich, Marc Bartoli, Nathalie Danièle, et al.. NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. FASEB Journal, Federation of American Society of Experimental Biology, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩. ⟨hal-01610041⟩

Marc Bartoli, Evelyne Gicquel, Laetitia Barrault, Tayebeh Soheili, Marie Malissen, et al.. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.. Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (9), pp.1214-21. ⟨10.1093/hmg/ddn029⟩. ⟨hal-00294192⟩

Françoise Fougerousse, Marc Bartoli, Jérôme Poupiot, Ludovic Arandel, Muriel Durand, et al.. Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Molecular Therapy, Cell Press, 2007, 15 (1), pp.53-61. ⟨10.1038/sj.mt.6300022⟩. ⟨hal-01610043⟩

Marc Bartoli, C Roudaut, S Martin, F Fougerousse, L Suel, et al.. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Molecular Therapy, Cell Press, 2006, 13 (2), pp.250-259. ⟨10.1016/j.ymthe.2005.09.017⟩. ⟨hal-01610047⟩