Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Co...
Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease
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Author / Creator
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 and Lee, Joseph H.
Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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.
We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brain autopsies included neuropathologically defin...
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Full title
Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease
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TN_cdi_plos_journals_1677644842
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1677644842
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0125204
