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

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 (PTC) muta...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881566/
https://www.ncbi.nlm.nih.gov/pubmed/33579389
http://dx.doi.org/10.1186/s40478-021-01121-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881566/
https://www.ncbi.nlm.nih.gov/pubmed/33579389
http://dx.doi.org/10.1186/s40478-021-01121-w

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