ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

por Marelli, Cecilia, Hamel, Christian, Quiles, Melanie, Carlander, Bertrand, Larrieu, Lise, Delettre, Cecile, Sarzi, Emmanuelle, Chretien, Dominique, Rustin, Pierre, Koenig, Michel, Guissart, Claire
Publicado 2018

Experience of targeted Usher exome sequencing as a clinical test

por Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

por García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Publicado 2014