Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease

OBJECTIVE: Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. METHODS: We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231...

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Detalles Bibliográficos
Autores principales: Clark, Lorraine N., Chan, Robin, Cheng, Rong, Liu, Xinmin, Park, Naeun, Parmalee, Nancy, Kisselev, Sergey, Cortes, Etty, Torres, Paola A., Pastores, Gregory M., Vonsattel, Jean P., Alcalay, Roy, Marder, Karen, Honig, Lawrence L., Fahn, Stanley, Mayeux, Richard, Shelanski, Michael, Di Paolo, Gilbert, Lee, Joseph H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416714/
https://www.ncbi.nlm.nih.gov/pubmed/25933391
http://dx.doi.org/10.1371/journal.pone.0125204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416714/
https://www.ncbi.nlm.nih.gov/pubmed/25933391
http://dx.doi.org/10.1371/journal.pone.0125204

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