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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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Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophyNeuropathology and Applied Neurobiology, 2018, 44 (5), pp.441-448. ⟨10.1111/nan.12410⟩
Journal articles
hal-02333045v1
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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marksNature 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 familiesEuropean Journal of Neurology, 2018, 25 (5), pp.790-794. ⟨10.1111/ene.13598⟩
Journal articles
hal-02304997v1
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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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