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

Por Caillet-Boudin, Marie-Laure, Fernandez-Gomez, Francisco-Jose, Tran, Hélène, Dhaenens, Claire-Marie, Buee, Luc, Sergeant, Nicolas
Publicado em 2014

Tau as a biomarker of neurodegenerative diseases

Por Schraen-Maschke, Susanna, Sergeant, Nicolas, Dhaenens, Claire-Marie, Bombois, Stephanie, Deramecourt, Vincent, Caillet-Boudin, Marie-Laure, Pasquier, Florence, Maurage, Claude-Alain, Sablonniere, Bernard, Vanmechelen, Eugeen, Buee, Luc
Publicado em 2008

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

Por 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.
Publicado no Transl Vis Sci Technol (2016)

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

Por 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.
Publicado no Sci Rep (2016)

Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

Por Tran, Hélène, Gourrier, Nathalie, Lemercier-Neuillet, Camille, Dhaenens, Claire-Marie, Vautrin, Audrey, Fernandez-Gomez, Francisco José, Arandel, Ludovic, Carpentier, Céline, Obriot, Hélène, Eddarkaoui, Sabiha, Delattre, Lucie, Van Brussels, Edwige, Holt, Ian, Morris, Glenn E., Sablonnière, Bernard, Buée, Luc, Charlet-Berguerand, Nicolas, Schraen-Maschke, Susanna, Furling, Denis, Behm-Ansmant, Isabelle, Branlant, Christiane, Caillet-Boudin, Marie-Laure, Sergeant, Nicolas
Publicado em 2011

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Por Manes, Gaël, Meunier, Isabelle, Avila-Fernández, Almudena, Banfi, Sandro, Le Meur, Guylène, Zanlonghi, Xavier, Corton, Marta, Simonelli, Francesca, Brabet, Philippe, Labesse, Gilles, Audo, Isabelle, Mohand-Said, Saddek, Zeitz, Christina, Sahel, José-Alain, Weber, Michel, Dollfus, Hélène, Dhaenens, Claire-Marie, Allorge, Delphine, De Baere, Elfride, Koenekoop, Robert K., Kohl, Susanne, Cremers, Frans P.M., Hollyfield, Joe G., Sénéchal, Audrey, Hebrard, Maxime, Bocquet, Béatrice, Ayuso García, Carmen, Hamel, Christian P.
Publicado em 2013

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Por 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
Publicado em 2013