Angelman syndrome and isovaleric acidemia: What is the link?

por Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel
Publicado 2015

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

por Casse, Fanny, Courtin, Thomas, Tesson, Christelle, Ferrien, Mélanie, Noël, Sandrine, Fauret‐Amsellem, Anne‐Laure, Gareau, Thomas, Guegan, Justine, Anheim, Mathieu, Mariani, Louise‐Laure, Le Forestier, Nadine, Tranchant, Christine, Corvol, Jean‐Christophe, Lesage, Suzanne, Brice, Alexis
Publicado 2023

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

por Passone, Caroline de Gouveia Buff, Vermillac, Gaëlle, Staels, Willem, Besancon, Alix, Kariyawasam, Dulanjalee, Godot, Cécile, Lambe, Cécile, Talbotec, Cécile, Girard, Muriel, Chardot, Christophe, Berteloot, Laureline, Hachem, Taymme, Lapillonne, Alexandre, Poidvin, Amélie, Storey, Caroline, Neve, Mathieu, Stan, Cosmina, Dugelay, Emmanuelle, Fauret-Amsellem, Anne-Laure, Capri, Yline, Cavé, Hélène, Ybarra, Marina, Chandra, Vikash, Scharfmann, Raphaël, Bismuth, Elise, Polak, Michel, Carel, Jean Claude, Pigneur, Bénédicte, Beltrand, Jacques
Publicado 2022