Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

por Baide‐Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐Claire, François‐Heude, Marie‐Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe
Publicado 2023

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

por Ekong, Rosemary, Nellist, Mark, Hoogeveen‐Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Publicado 2016

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

por Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie
Publicado 2022