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Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A, Cheshire WP, van Deerlin V, Desplats P, Deuschl G, Duyckaerts C, Ellinghaus D, Evsyukov V, Flanagan ME, Franke A, Frosch MP, Gearing M, Gelpi E, van Gerpen JA, Ghetti B, Glass JD, Grinberg LT, Halliday G, Helbig I, Höllerhage M, Huitinga I, Irwin DJ, Keene DC, Kovacs GG, Lee EB, Levin J, Martí MJ, Mackenzie I, McKeith I, Mclean C, Mollenhauer B, Neumann M, Newell KL, Pantelyat A, Pendziwiat M, Peters A, Molina Porcel L, Rabano A, Matěj R, Rajput A, Rajput A, Reimann R, Scott WK, Seeley W, Selvackadunco S, Simuni T, Stadelmann C, Svenningsson P, Thomas A, Trenkwalder C, Troakes C, Trojanowski JQ, Uitti RJ, White CL, Wszolek ZK, Xie T, Ximelis T, Yebenes J; Alzheimer's Disease Genetics Consortium; Müller U, Schellenberg GD, Herms J, Kuhlenbäumer G, Höglinger G. Hopfner F, et al. Among authors: van gerpen ja. Mov Disord. 2022 Oct;37(10):2110-2121. doi: 10.1002/mds.29164. Epub 2022 Aug 23. Mov Disord. 2022. PMID: 35997131 Free PMC article.
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.
Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Koike Y, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2021 Aug;89:151-154. doi: 10.1016/j.parkreldis.2021.07.018. Epub 2021 Jul 17. Parkinsonism Relat Disord. 2021. PMID: 34303201 Free PMC article.
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Prudencio M, et al. Among authors: van gerpen ja. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
Myoclonus: An Electrophysiological Diagnosis.
Merchant SHI, Vial-Undurraga F, Leodori G, van Gerpen JA, Hallett M. Merchant SHI, et al. Among authors: van gerpen ja. Mov Disord Clin Pract. 2020 Jun 17;7(5):489-499. doi: 10.1002/mdc3.12986. eCollection 2020 Jul. Mov Disord Clin Pract. 2020. PMID: 32626792 Free PMC article. Review.
Subtypes of dementia with Lewy bodies are associated with α-synuclein and tau distribution.
Ferman TJ, Aoki N, Boeve BF, Aakre JA, Kantarci K, Graff-Radford J, Parisi JE, Van Gerpen JA, Graff-Radford NR, Uitti RJ, Pedraza O, Murray ME, Wszolek ZK, Reichard RR, Fields JA, Ross OA, Knopman DS, Petersen RC, Dickson DW. Ferman TJ, et al. Among authors: van gerpen ja. Neurology. 2020 Jul 14;95(2):e155-e165. doi: 10.1212/WNL.0000000000009763. Epub 2020 Jun 19. Neurology. 2020. PMID: 32561678 Free PMC article.
105 results