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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.
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.
Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms.
Hassan A, Heckman MG, Ahlskog JE, Wszolek ZK, Serie DJ, Uitti RJ, van Gerpen JA, Okun MS, Rayaprolu S, Ross OA. Hassan A, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2016 Jan;22:102-5. doi: 10.1016/j.parkreldis.2015.11.016. Epub 2015 Nov 25. Parkinsonism Relat Disord. 2016. PMID: 26627941 Free PMC article.
Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension.
van Gerpen JA, Al-Shaikh RH, Tipton PW, Wszolek ZK, Uitti RJ, Ferman TJ, Dickson DW, Benarroch EE, Singer W, Cutsforth-Gregory JK, Heckman MG, Brushaber DE, Josephs KA, Low PA, Ahlskog JE, Cheshire WP. van Gerpen JA, et al. Neurology. 2019 Oct 1;93(14):e1339-e1347. doi: 10.1212/WNL.0000000000008197. Epub 2019 Sep 4. Neurology. 2019. PMID: 31484717
121 results