Projets financés
European Diamond-Blackfan Anemia Consortium – EuroDBA
European young investigators network for Usher syndrome – Eur-USH
UNDERSTANDING THE CAUSES OF HEART DEFECTS IN MYOTONIC DYSTROPHIES – HEART DM
Targeting the unknowns in causes and phenotypes of the Cornelia de Lange Syndrome – TARGET-CdLS
The Molecular Basis for Neurodegeneration and Muscle Atrophy in ALS – ALS-degeneration
COENZYME Q10 DEFICIENCY SYNDROME: UNDERSTANDING THE GENOTYPE-PHENOTYPE ASSOCIATION AND METABOLIC DYSFUNCTION THROUGH GENERATION OF INDUCED PLURIPOTENT STEM CELLS (iPSCs) FROM PATIENT-SPECIFIC UNCORRECTED AND GENETICALLY-CORRECTED CELLS – COQ-iPSC
Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome – Cure-FXTAS