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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: oertel wh. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
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: oertel wh. medRxiv [Preprint]. 2024 Jan 30:2023.12.28.23300612. doi: 10.1101/2023.12.28.23300612. medRxiv. 2024. PMID: 38234807 Free PMC article. Preprint.
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. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
Grimm MJ, Respondek G, Stamelou M, Arzberger T, Ferguson L, Gelpi E, Giese A, Grossman M, Irwin DJ, Pantelyat A, Rajput A, Roeber S, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Colosimo C, van Eimeren T, Kassubek J, Levin J, Meissner WG, Nilsson C, Oertel WH, Piot I, Poewe W, Wenning GK, Boxer A, Golbe LI, Josephs KA, Litvan I, Morris HR, Whitwell JL, Compta Y, Corvol JC, Lang AE, Rowe JB, Höglinger GU; Movement Disorder Society-endorsed PSP Study Group. Grimm MJ, et al. Among authors: oertel wh. Mov Disord. 2019 Aug;34(8):1228-1232. doi: 10.1002/mds.27666. Epub 2019 Mar 18. Mov Disord. 2019. PMID: 30884545 Free PMC article.
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: oertel wh. Brain. 2010 Jun;133(Pt 6):1578-90. doi: 10.1093/brain/awq115. Epub 2010 May 14. Brain. 2010. PMID: 20472654 Review.
The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases.
Respondek G, Stamelou M, Kurz C, Ferguson LW, Rajput A, Chiu WZ, van Swieten JC, Troakes C, Al Sarraj S, Gelpi E, Gaig C, Tolosa E, Oertel WH, Giese A, Roeber S, Arzberger T, Wagenpfeil S, Höglinger GU; Movement Disorder Society-endorsed PSP Study Group. Respondek G, et al. Among authors: oertel wh. Mov Disord. 2014 Dec;29(14):1758-66. doi: 10.1002/mds.26054. Epub 2014 Nov 5. Mov Disord. 2014. PMID: 25370486
Accuracy of the National Institute for Neurological Disorders and Stroke/Society for Progressive Supranuclear Palsy and neuroprotection and natural history in Parkinson plus syndromes criteria for the diagnosis of progressive supranuclear palsy.
Respondek G, Roeber S, Kretzschmar H, Troakes C, Al-Sarraj S, Gelpi E, Gaig C, Chiu WZ, van Swieten JC, Oertel WH, Höglinger GU. Respondek G, et al. Among authors: oertel wh. Mov Disord. 2013 Apr;28(4):504-9. doi: 10.1002/mds.25327. Epub 2013 Feb 21. Mov Disord. 2013. PMID: 23436751
Which ante mortem clinical features predict progressive supranuclear palsy pathology?
Respondek G, Kurz C, Arzberger T, Compta Y, Englund E, Ferguson LW, Gelpi E, Giese A, Irwin DJ, Meissner WG, Nilsson C, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Whitwell JL, Antonini A, Bhatia KP, Bordelon Y, Corvol JC, Colosimo C, Dodel R, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris H, Nestor P, Oertel WH, Rabinovici GD, Rowe JB, van Eimeren T, Wenning GK, Boxer A, Golbe LI, Litvan I, Stamelou M, Höglinger GU; Movement Disorder Society-Endorsed PSP Study Group. Respondek G, et al. Among authors: oertel wh. Mov Disord. 2017 Jul;32(7):995-1005. doi: 10.1002/mds.27034. Epub 2017 May 13. Mov Disord. 2017. PMID: 28500752 Free PMC article. Review.
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