The value of respiratory muscle testing in a child with congenital muscular dystrophy

by Khirani, Sonia, Dabaj, Ivana, Amaddeo, Alessandro, Ramirez, Adriana, Quijano-Roy, Susana, Fauroux, Brigitte
Published 2014

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

by Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.
Published 2016