Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research focused on Lissencephaly and Ribitol, with related work in Gene, Limb-girdle muscular dystrophy, Congenital muscular dystrophy. Notable publications include 'Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly', 'ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan', and 'A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing'.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly