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A Multi-center Genome-wide Association Study of Cervical Dystonia.
Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. Sun YV, et al. Among authors: pantelyat ay. Mov Disord. 2021 Dec;36(12):2795-2801. doi: 10.1002/mds.28732. Epub 2021 Jul 28. Mov Disord. 2021. PMID: 34320236 Free PMC article.
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group. Höglinger GU, et al. Mov Disord. 2017 Jun;32(6):853-864. doi: 10.1002/mds.26987. Epub 2017 May 3. Mov Disord. 2017. PMID: 28467028 Free PMC article.
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. 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.
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. 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.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
The Progressive Supranuclear Palsy Clinical Deficits Scale.
Piot I, Schweyer K, Respondek G, Stamelou M; DescribePSP study group; ProPSP study group; MDS-endorsed PSP study group; Sckopke P, Schenk T, Goetz CG, Stebbins GT, Höglinger GU. Piot I, et al. Mov Disord. 2020 Apr;35(4):650-661. doi: 10.1002/mds.27964. Epub 2020 Jan 17. Mov Disord. 2020. PMID: 31951049
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