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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. Among authors: de deyn pp, de yebenes jg, de silva r. medRxiv [Preprint]. 2024 Jan 30:2023.12.28.23300612. doi: 10.1101/2023.12.28.23300612. medRxiv. 2024. PMID: 38234807 Free PMC article. Preprint.
Rational therapeutic approaches to progressive supranuclear palsy.
Stamelou M, de Silva R, Arias-Carrión O, Boura E, Höllerhage M, Oertel WH, Müller U, Höglinger GU. Stamelou M, et al. Among authors: de silva r. Brain. 2010 Jun;133(Pt 6):1578-90. doi: 10.1093/brain/awq115. Epub 2010 May 14. Brain. 2010. PMID: 20472654 Review.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: de silva r. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR. Jabbari E, et al. Among authors: de silva r. Ann Neurol. 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15. Ann Neurol. 2018. PMID: 30066433 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. Among authors: de silva r. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
Argyrophilic grain disease is a sporadic 4-repeat tauopathy.
Togo T, Sahara N, Yen SH, Cookson N, Ishizawa T, Hutton M, de Silva R, Lees A, Dickson DW. Togo T, et al. Among authors: de silva r. J Neuropathol Exp Neurol. 2002 Jun;61(6):547-56. doi: 10.1093/jnen/61.6.547. J Neuropathol Exp Neurol. 2002. PMID: 12071638
618 results