Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

von Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège
Veröffentlicht in Eur J Hum Genet (2018)

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

von Calmels, Nadège, Seznec, Hervé, Villa, Pascal, Reutenauer, Laurence, Hibert, Marcel, Haiech, Jacques, Rustin, Pierre, Koenig, Michel, Puccio, Hélène
Veröffentlicht 2009

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

von Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Costanzo, Federico, Calmels, Nadege, Obringer, Cathy, Sarasin, Alain, Coin, Frederic, Laugel, Vincent, Egly, Jean-Marc
Veröffentlicht in Sci Rep (2020)

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

von Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène
Veröffentlicht 2009

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

von Barthélémy, Inès, Calmels, Nadège, Weiss, Robert B., Tiret, Laurent, Vulin, Adeline, Wein, Nicolas, Peccate, Cécile, Drougard, Carole, Beroud, Christophe, Deburgrave, Nathalie, Thibaud, Jean-Laurent, Escriou, Catherine, Punzón, Isabel, Garcia, Luis, Kaplan, Jean-Claude, Flanigan, Kevin M., Leturcq, France, Blot, Stéphane
Veröffentlicht in Skelet Muscle (2020)

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

von Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent
Veröffentlicht in Orphanet J Rare Dis (2016)