Identify the genetic basis of myopathies
Subgroup Leader : Valérie BIANCALANA
We study rare and severe neuromuscular disorders caused by mutations in proteins controlling intracellular organization and dynamics. We aim to tackle the three main bottlenecks in this field:
Identify the genetic basis of myopathies, myalgia and high athletic performances
Project leaders : Valérie BIANCALANA, Johann BOHM, Jocelyn LAPORTE
Understand and cure myotubular/centronuclear myopathies through gene modulation and pharmacology
Project leader : Jocelyn LAPORTE
Understand and cure tubular aggregates myopathy and Stormorken syndrome through gene modulation and pharmacology
Project leader : Johann BOHM
Subgroup Leader : Valérie BIANCALANA
Subgroup Leader : Jocelyn LAPORTE
Science Translational Medicine ; Volume: 11 ; Page: eaav1866
Journal of Medical Genetics ; Volume: 56 ; Page: 617-621
Journal of Neurology ; Volume: 266 ; Page: 2524-2534
Acta Neuropathologica Communications ; Volume: 7
Human Molecular Genetics ; Volume: 28 ; Page: 4067-4077
Human Molecular Genetics ; Volume: 28 ; Page: 1579-1593
Muscle & Nerve ; Volume: 59 ; Page: 137-141
Journal of Neuromuscular Diseases ; Volume: 6 ; Page: 289 - 305
Current fundings:
Her work, supervised by Jocelyn Laporte (IGBMC) and Julie Thompson (ICUBE), is entitled: “Multiscale characterization of rare genetic diseases through…
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Follow our publications and latest research on Researchgate : www.researchgate.net/profile/Jocelyn-Laporte
Raw data for our study on Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies. Mol Ther. 2021 Apr 30:S1525-0016(21)00247-1.
www.ncbi.nlm.nih.gov/geo/query/acc.cgi
www.sciencedirect.com/science/article/abs/pii/S1525001621002471
In the press: