Distrofias musculares congénitas

by Susana Quijano-Roy, MD, PhD, Marta Gómez-Garcia de la Banda, MD
Published 2018-09-01

Congenital muscular dystrophies: classification and diagnostic strategy

by François Rivier, Pierre Meyer, Ulrike Walther-Louvie, Moïse Mercier, Bernard Echenne, Susana Quijano-Roy
Published 2015-02-01

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

by Isabelle Gerin, Benoît Ury, Isabelle Breloy, Céline Bouchet-Seraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean-Marie Cuisset, Ivana Dabaj, Susana Quijano-Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer
Published 2016-05-01

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.

by Andreea Mihaela Seferian, Amélie Moraux, Aurélie Canal, Valérie Decostre, Oumar Diebate, Anne Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, Frauke Van Parys, Wendy Vereecke, Sylvia Wittevrongel, Mélanie Annoussamy, Michèle Mayer, Kim Maincent, Jean-Marie Cuisset, Vincent Tiffreau, Severine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean-Yves Hogrel, Laurent Servais
Published 2015-01-01

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

by Andreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, Aurélie Canal, Valérie Decostre, Oumar Diebate, Anne-Gaëlle Le Moing, Teresa Gidaro, Nicolas Deconinck, Frauke Van Parys, Wendy Vereecke, Sylvia Wittevrongel, Michèle Mayer, Kim Maincent, Isabelle Desguerre, Christine Thémar-Noël, Jean-Marie Cuisset, Vincent Tiffreau, Severine Denis, Virginie Jousten, Susana Quijano-Roy, Thomas Voit, Jean-Yves Hogrel, Laurent Servais
Published 2015-01-01

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

by Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerre
Published 2020-06-01