Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

by Caillet-Boudin, Marie-Laure, Fernandez-Gomez, Francisco-Jose, Tran, Hélène, Dhaenens, Claire-Marie, Buee, Luc, Sergeant, Nicolas
Published 2014

Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial

by Parker, Maria A., Choi, Dongseok, Erker, Laura R., Pennesi, Mark E., Yang, Paul, Chegarnov, Elvira N., Steinkamp, Peter N., Schlechter, Catherine L., Dhaenens, Claire-Marie, Mohand-Said, Saddek, Audo, Isabelle, Sahel, Jose, Weleber, Richard G., Wilson, David J.
Published 2016

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

by Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Published 2016

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

by Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Published 2013