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Structure: Internal structure identifier : 328273

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

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

A. Vihola , H. Luque , M. Savarese , S. Penttilä , M. Lindfors , et al.
Neuropathology and Applied Neurobiology, 2018, 44 (5), pp.441-448. ⟨10.1111/nan.12410⟩
Journal articles hal-02333045v1

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Florence Demenais , Patricia Margaritte-Jeannin , Kathleen Barnes , William O. C. M. Cookson , Janine Altmüller , et al.
Nature Genetics, 2018, 50 (1), pp.42-53. ⟨10.1038/s41588-017-0014-7⟩
Journal articles inserm-02874534v1
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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

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