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Structure: Internal structure identifier : 116139

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⟩
Journal articles hal-02321460v1

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Karine Charton , Jaakko Sarparanta , Anna Vihola , Astrid Milic , Per Harald Jonson , et al.
Human Molecular Genetics, 2015, 24 (13), pp.3718-3731. ⟨10.1093/hmg/ddv116⟩
Journal articles hal-02336889v1

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⟩
Journal articles hal-02336935v1
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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

P. H. Jonson , J. Palmio , M. Johari , S. Penttilä , A. Evilä , et al.
European Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩
Journal articles hal-02304997v1

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⟩
Journal articles hal-02336883v1

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017

Conrad Weihl , Bjarne Udd , Michael Hanna , Anat Ben-Zvi , Thomas Blaettler , et al.
Neuromuscular Disorders, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Journal articles hal-02332981v1

Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä , Anna Vihola , Jaakko Sarparanta , Olayinka Raheem , Johanna Palmio , et al.
Annals of Neurology, 2014, 75 (2), pp.230-240. ⟨10.1002/ana.24102⟩
Journal articles istex hal-02336903v1