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Page 1
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: pfeiffer rf. 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: pfeiffer rf. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
Levodopa-induced lateral jaw deviation dystonia.
Pfeiffer RF, LeDoux MS. Pfeiffer RF, et al. Parkinsonism Relat Disord. 2015 Jul;21(7):808. doi: 10.1016/j.parkreldis.2015.02.012. Epub 2015 Apr 25. Parkinsonism Relat Disord. 2015. PMID: 25956205 No abstract available.
Annual report.
Pfeiffer RF, Wszolek ZK. Pfeiffer RF, et al. Parkinsonism Relat Disord. 2010 Jan;16(1):1. doi: 10.1016/j.parkreldis.2009.12.005. Parkinsonism Relat Disord. 2010. PMID: 20123568 No abstract available.
So long, and thanks for all the fish.
Wszolek ZK, Pfeiffer RF. Wszolek ZK, et al. Among authors: pfeiffer rf. Parkinsonism Relat Disord. 2018 Jan;46:1. doi: 10.1016/j.parkreldis.2017.12.027. Parkinsonism Relat Disord. 2018. PMID: 29295733 No abstract available.
Genetic factors influencing age at onset in LRRK2-linked Parkinson disease.
Golub Y, Berg D, Calne DB, Pfeiffer RF, Uitti RJ, Stoessl AJ, Wszolek ZK, Farrer MJ, Mueller JC, Gasser T, Fuchs J. Golub Y, et al. Among authors: pfeiffer rf. Parkinsonism Relat Disord. 2009 Aug;15(7):539-41. doi: 10.1016/j.parkreldis.2008.10.008. Epub 2008 Nov 28. Parkinsonism Relat Disord. 2009. PMID: 19041274
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS. Xiao J, et al. Among authors: pfeiffer rf. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370264 Free PMC article.
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS. Luciano AY, et al. Among authors: pfeiffer rf. Parkinsonism Relat Disord. 2014 Dec;20(12):1423-6. doi: 10.1016/j.parkreldis.2014.09.029. Epub 2014 Oct 5. Parkinsonism Relat Disord. 2014. PMID: 25406829 Free PMC article.
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: pfeiffer rf. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488297 No abstract available.
168 results