Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

por Smolders, Stefanie, Philtjens, Stéphanie, Crosiers, David, Sieben, Anne, Hens, Elisabeth, Heeman, Bavo, Van Mossevelde, Sara, Pals, Philippe, Asselbergh, Bob, Dos Santos Dias, Roberto, Vermeiren, Yannick, Vandenberghe, Rik, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Martin, Jean-Jacques, Cras, Patrick, Annaert, Wim, Van Broeckhoven, Christine
Publicado 2021

Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

por Martin, Shaun, Smolders, Stefanie, Van den Haute, Chris, Heeman, Bavo, van Veen, Sarah, Crosiers, David, Beletchi, Igor, Verstraeten, Aline, Gossye, Helena, Gelders, Géraldine, Pals, Philippe, Hamouda, Norin Nabil, Engelborghs, Sebastiaan, Martin, Jean-Jacques, Eggermont, Jan, De Deyn, Peter Paul, Cras, Patrick, Baekelandt, Veerle, Vangheluwe, Peter, Van Broeckhoven, Christine
Publicado 2020