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Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

 William Lostal , Marc Bartoli , Carinne Roudaut , Nathalie Bourg , Martin Krahn , et al.
PLoS ONE, 2012, 7 (5), ⟨10.1371/journal.pone.0038036⟩
Article dans une revue hal-01610028v1

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor‐κB pathway in skeletal muscle

 Lydie Laure , Nathalie Danièle , Laurence Suel , Sylvie Marchand , Sophie Aubert , et al.
FEBS Journal, 2010, 277 (20), pp.4322-4337. ⟨10.1111/j.1742-4658.2010.07820.x⟩
Article dans une revue hal-01610035v1

Restriction of Calpain3 Expression to the Skeletal Muscle Prevents Cardiac Toxicity and Corrects Pathology in a Murine Model of Limb-Girdle Muscular Dystrophy

 Carinne Roudaut , Florence Le Roy , Laurence Suel , Jérôme Poupiot , Karine Charton , et al.
Circulation, 2013, 128 (10), pp.1094-1104. ⟨10.1161/CIRCULATIONAHA.113.001340⟩
Article dans une revue hal-01610023v1

Cis -splicing and Translation of the Pre- Trans -splicing Molecule Combine With Efficiency in Spliceosome-mediated RNA Trans -splicing

 François Monjaret , Nathalie Bourg , Laurence Suel , Carinne Roudaut , Florence Le Roy , et al.
Molecular Therapy, 2014, 22 (6), pp.1176-1187. ⟨10.1038/mt.2014.35⟩
Article dans une revue hal-02336897v1

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 , et al.
Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩
Article dans une revue hal-02336935v1

A new titinopathy

 Rafael de Cid , Rabah Ben Yaou , Carinne Roudaut , Karine Charton , Sylvain Baulande , et al.
Neurology, 2015, 85 (24), pp.2126-2135. ⟨10.1212/WNL.0000000000002200⟩
Article dans une revue hal-02336883v1

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

 William Lostal , Marc Bartoli , Nathalie Bourg , Carinne Roudaut , Azéddine Bentaib , et al.
Human Molecular Genetics, 2010, 19 (10), pp.1897-1907. ⟨10.1093/hmg/ddq065⟩
Article dans une revue istex hal-01610036v1

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

 Astrid Milic , Nathalie Danièle , Hanns Lochmueller , Marina Mora , Giacomo P. Comi , et al.
Neuromuscular Disorders, 2007, 17 (2), pp.148-156. ⟨10.1016/j.nmd.2006.11.001⟩
Article dans une revue istex hal-01610045v1

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 , et al.
Human Molecular Genetics, 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩
Article dans une revue hal-02321460v1

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

 Lydie Laure , Laurence Suel , Carinne Roudaut , Nathalie Bourg , Ahmed Ouali , et al.
FEBS Journal, 2009, 276 (3), pp.669-684. ⟨10.1111/j.1742-4658.2008.06814.x⟩
Article dans une revue hal-01610040v1

A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence

 Marina Pryadkina , William Lostal , Nathalie Bourg , Karine Charton , Carinne Roudaut , et al.
Molecular Therapy - Methods and Clinical Development, 2015, 2, pp.15009. ⟨10.1038/mtm.2015.9⟩
Article dans une revue hal-02336876v1

Species-specific titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy 2A

 William Lostal , Carinne Roudaut , Marine Faivre , Karine Charton , Laurence Suel , et al.
Science Translational Medicine, 2019, 11 (520), pp.eaat6072. ⟨10.1126/scitranslmed.aat6072⟩
Article dans une revue hal-02408897v1

γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort

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

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

 Juliette Nectoux , Rafael de Cid , Sylvain Baulande , France Leturcq , Jon Andoni Urtizberea , et al.
European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
Article dans une revue hal-02190709v1
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