Accéder directement au contenu
EG

Evelyne Gicquel

16
Documents
Identifiants chercheurs
  • IdHAL evelyne-gicquel

Présentation

Publications

Image document

Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice

P. Sellier , P. Vidal , B. Bertin , E. Gicquel , E Bertil‐froidevaux
Journal of Inherited Metabolic Disease, 2023, ⟨10.1002/jimd.12625⟩
Article dans une revue hal-04302850v1
Image document

Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

Celine Bruge , Marine Geoffroy , Manon Benabides , Emilie Pellier , Evelyne Gicquel
Biomedicines, 2022, 10 (6), pp.1428. ⟨10.3390/biomedicines10061428⟩
Article dans une revue hal-03858917v1
Image document

Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in Duchenne muscular dystrophy

Ai Vu Hong , Nathalie Bourg , Peggy Sanatine , Jerome Poupiot , Karine Charton
Life Science Alliance, 2022, ⟨10.26508/lsa.202201506⟩
Article dans une revue hal-03454735v2
Image document

Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model

Camille Vaubourg , Evelyne Gicquel , Isabelle Richard , William Lostal , Jessica Bellec
Journal of Neuromuscular Diseases, 2021, 8 (5), pp.785-793. ⟨10.3233/JND-200487⟩
Article dans une revue hal-03003866v2
Image document

Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants

Sara F Henriques , Evelyne Gicquel , Justine Marsolier , Isabelle Richard
Human Mutation, 2019, 40 (10), pp.1874-1885. ⟨10.1002/humu.23827⟩
Article dans une revue hal-02177499v1

γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort

Evelyne Gicquel , Natacha Maizonnier , Steven Foltz , William Martin , Nathalie Bourg
Muscle & nerve. Supplement., 2017, 56 (1), pp.129-135. ⟨10.1002/mus.25443⟩
Article dans une revue hal-02333075v1

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression

Evelyne Gicquel , Natacha Maizonnier , Steven Foltz , William Martin , Nathalie Bourg
Human Molecular Genetics, 2017, 26 (10), pp.1952-1965. ⟨10.1093/hmg/ddx066⟩
Article dans une revue hal-02177575v1

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Isabelle Richard , Jean-Pierre Laurent , Sebahattin Cirak , John Vissing , Susan Brown
Neuromuscular Disorders, 2016, 26 (10), pp.717-724. ⟨10.1016/j.nmd.2016.08.012⟩
Article dans une revue hal-02333077v1

The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5

Florence Le Roy , Laurence Suel , Jérôme Poupiot , Marc Bartoli , François Monjaret
Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩
Article dans une revue hal-02336935v1
Image document

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Gaëlle Blandin , Sylvie Marchand , Karine Charton , Nathalie Danièle , Evelyne Gicquel
Skeletal Muscle, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩
Article dans une revue inserm-00805816v1

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Tayebeh Soheili , Evelyne Gicquel , Jérôme Poupiot , Luu N'Guyen , Florence Le Roy
Human Mutation, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩
Article dans une revue hal-01610024v1

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

Karine Charton , Nathalie Danièle , Anna Vihola , Carinne Roudaut , Evelyne Gicquel
Human Molecular Genetics, 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩
Article dans une revue hal-02321460v1

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.

Marc Bartoli , Evelyne Gicquel , Laetitia Barrault , Tayebeh Soheili , Marie Malissen
Human Molecular Genetics, 2008, 17 (9), pp.1214-21. ⟨10.1093/hmg/ddn029⟩
Article dans une revue hal-00294192v1

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

Beatrice Benayoun , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Danièle
FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩
Article dans une revue hal-01610041v1
Image document

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

Françoise Fougerousse , Marc Bartoli , Jérôme Poupiot , Ludovic Arandel , Muriel Durand
Molecular Therapy, 2007, 15 (1), pp.53-61. ⟨10.1038/sj.mt.6300022⟩
Article dans une revue hal-01610043v1

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Marc Bartoli , C Roudaut , S Martin , F Fougerousse , L Suel
Molecular Therapy, 2006, 13 (2), pp.250-259. ⟨10.1016/j.ymthe.2005.09.017⟩
Article dans une revue hal-01610047v1