Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease
Abstract Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous and compound heterozygous premature termination codon (...
Main Authors: | Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean-Jacques Martin, Patrick Cras, Wim Annaert, Christine Van Broeckhoven, BELNEU consortium |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-02-01
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Series: | Acta Neuropathologica Communications |
Subjects: | |
Online Access: | https://doi.org/10.1186/s40478-021-01121-w |
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