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Paulson, Henry L

0000-0002-0382-7535

Mayo Clinic

Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

Citations 15

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Science Translational Medicine | October 21, 2020 | Volume: 12 | Issue: 566 | Pages: No page available

10.1126/scitranslmed.abb7086 | PMID 33087504

PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and a SNP associated with the expanded allele may serve to specifically target mutant ATXN3 .
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel

JAMA Neurology | October 19, 2020 | Volume: 78 | Issue: 1 | Pages: 102

10.1001/jamaneurol.2020.3536 | PMID 33074286

O5‐03‐04: THE LEWY BODY DEMENTIA ASSOCIATION RESEARCH CENTERS OF EXCELLENCE PROGRAM: TOWARD OPTIMIZING CLINICAL CARE AND CLINICAL TRIAL INFRASTRUCTURE

Alzheimer's & Dementia | October 22, 2018 | Volume: 14 | Issue: 7S_Part_31 | Pages: No page available

10.1016/j.jalz.2018.06.3010

Transethnic genome‐wide scan identifies novel Alzheimer's disease loci

Alzheimer's & Dementia | February 6, 2017 | Volume: 13 | Issue: 7 | Pages: 727-738

10.1016/j.jalz.2016.12.012 | PMID 28183528

Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.
Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease

JAMA Neurology | September 8, 2014 | Volume: 71 | Issue: 11 | Pages: 1394

10.1001/jamaneurol.2014.1491 | PMID 25199842