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Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Bastard NL, Gearing M, Kaat LD, Swieten JCV, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Deerlin VMV, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. medRxiv [Preprint]. 2024 Jan 30:2023.12.28.23300612. doi: 10.1101/2023.12.28.23300612. medRxiv. 2024. Update in: Mol Neurodegener. 2024 Aug 16;19(1):61. doi: 10.1186/s13024-024-00747-3 PMID: 38234807 Free PMC article. Updated. Preprint.
LRP10 variants in progressive supranuclear palsy.
Vergouw LJM, Melhem S, Donker Kaat L, Chiu WZ, Kuipers DJS, Breedveld G, Boon AJW, Wang LS, Naj AC, Mlynarksi E, Cantwell L, Quadri M, Ross OA, Dickson DW, Schellenberg GD, van Swieten JC, Bonifati V, de Jong FJ. Vergouw LJM, et al. Neurobiol Aging. 2020 Oct;94:311.e5-311.e10. doi: 10.1016/j.neurobiolaging.2020.04.016. Epub 2020 Apr 30. Neurobiol Aging. 2020. PMID: 32527607 Free PMC article.
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
Jabbari E, Koga S, Valentino RR, Reynolds RH, Ferrari R, Tan MMX, Rowe JB, Dalgard CL, Scholz SW, Dickson DW, Warner TT, Revesz T, Höglinger GU, Ross OA, Ryten M, Hardy J, Shoai M, Morris HR; PSP Genetics Group. Jabbari E, et al. Lancet Neurol. 2021 Feb;20(2):107-116. doi: 10.1016/S1474-4422(20)30394-X. Epub 2020 Dec 17. Lancet Neurol. 2021. PMID: 33341150 Free PMC article.
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Nat Commun. 2024 Sep 9;15(1):7880. doi: 10.1038/s41467-024-52025-x. Nat Commun. 2024. PMID: 39251599 Free PMC article.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
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