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
Journal of Neuromuscular Diseases ; Volume: 3 ; Page: 111-114
Nature ; Volume: 529 ; Page: 408-12
Pediatric neurology ; Volume: 58 ; Page: 107-12
IntraVital ; Volume: 5
Acta Neuropathologica Communications ; Volume: 3
Developmental Cell ; Volume: 35 ; Page: 186-198
European Journal of Medical Genetics ; Volume: 58 ; Page: 556-561
Cell Reports ; Volume: 11 ; Page: 1564-1576
Revue Neurologique ; Volume: 171 ; Page: 558-571
Genetics and Molecular Biology ; Volume: 38 ; Page: 147 - 151
Current fundings:
On February 27, the IGBMC opened its doors to several members of the Unistra Alumni Network, led by Agnès Villanueva (Director of Alumni Relations),…
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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: