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  1. Article

    Open Access

    APOE ε2 is associated with increased tau pathology in primary tauopathy

    Apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease mainly by modulating amyloid-β pathology. APOE ε4 is also shown to exacerbate neurodegeneration and neuroi...

    Na Zhao, Chia-Chen Liu, Alexandra J. Van Ingelgom, Cynthia Linares… in Nature Communications (2018)

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  2. Article

    Open Access

    Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

    Progressive supranuclear palsy (PSP) is a parkinsonian neurodegenerative tauopathy affecting brain regions involved in motor function, including the basal ganglia, diencephalon and brainstem. While PSP is larg...

    Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook… in Molecular Neurodegeneration (2018)

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  3. No Access

    Article

    SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

    Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to d...

    Matt Baker, Audrey J. Strongosky, Monica Y. Sanchez-Contreras, Shan Yang… in neurogenetics (2014)