FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

per Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine
Publicat a Am J Hum Genet (2017)

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

per Klebe, Stephan, Depienne, Christel, Gerber, Sylvie, Challe, Georges, Anheim, Mathieu, Charles, Perrine, Fedirko, Estelle, Lejeune, Elodie, Cottineau, Julien, Brusco, Alfredo, Dollfus, Hélène, Chinnery, Patrick F., Mancini, Cecilia, Ferrer, Xavier, Sole, Guilhem, Destée, Alain, Mayer, Jean-Michel, Fontaine, Bertrand, de Seze, Jérôme, Clanet, Michel, Ollagnon, Elisabeth, Busson, Philippe, Cazeneuve, Cécile, Stevanin, Giovanni, Kaplan, Josseline, Rozet, Jean-Michel, Brice, Alexis, Durr, Alexandra
Publicat 2012

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

per Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Publicat 2011