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Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathiesHuman Molecular Genetics, 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩
Journal articles
hal-02321460v1
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CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathyHuman Molecular Genetics, 2015, 24 (13), pp.3718-3731. ⟨10.1093/hmg/ddv116⟩
Journal articles
hal-02336889v1
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The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩
Journal articles
hal-02336935v1
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A new titinopathyNeurology, 2015, 85 (24), pp.2126-2135. ⟨10.1212/WNL.0000000000002200⟩
Journal articles
hal-02336883v1
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Atypical phenotypes in titinopathies explained by second titin mutationsAnnals of Neurology, 2014, 75 (2), pp.230-240. ⟨10.1002/ana.24102⟩
Journal articles
istex
hal-02336903v1
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