Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

por Schuermans, Nika, Verdin, Hannah, Ghijsels, Jody, Hellemans, Madeleine, Debackere, Elke, Bogaert, Elke, Symoens, Sofie, Naesens, Leslie, Lecomte, Elien, Crosiers, David, Bergmans, Bruno, Verhoeven, Kristof, Poppe, Bruce, Laureys, Guy, Herdewyn, Sarah, Van Langenhove, Tim, Santens, Patrick, De Bleecker, Jan L., Hemelsoet, Dimitri, Dermaut, Bart
Publicado 2023

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

por Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul J., Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud V., Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce
Publicado 2022

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

por Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E., Rubien, Jack D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J., Shorter, James, De Bleecker, Jan L., Bogaert, Elke, Dermaut, Bart
Publicado 2023