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Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ. Appel-Cresswell S, et al. Mov Disord. 2013 Jun;28(6):811-3. doi: 10.1002/mds.25421. Epub 2013 Mar 1. Mov Disord. 2013. PMID: 23457019
DNAJC13 mutations in Parkinson disease.
Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Vilariño-Güell C, et al. Hum Mol Genet. 2014 Apr 1;23(7):1794-801. doi: 10.1093/hmg/ddt570. Epub 2013 Nov 11. Hum Mol Genet. 2014. PMID: 24218364 Free PMC article.
DNAJC13 genetic variants in parkinsonism.
Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ. Gustavsson EK, et al. Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12. Mov Disord. 2015. PMID: 25393719
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ. Guella I, et al. Brain. 2015 May;138(Pt 5):e349. doi: 10.1093/brain/awu341. Epub 2014 Dec 13. Brain. 2015. PMID: 25497597 Free PMC article. No abstract available.
DCTN1 p.K56R in progressive supranuclear palsy.
Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin CH, Wu RM, Stoessl J, Appel-Cresswell S, McKeown M, Rajput A, Rajput AH, Petersen MS, Jeon BS, Aasly JO, Farrer MJ. Gustavsson EK, et al. Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23. Parkinsonism Relat Disord. 2016. PMID: 27132499
Gender differences in Parkinson's disease depression.
Perrin AJ, Nosova E, Co K, Book A, Iu O, Silva V, Thompson C, McKeown MJ, Stoessl AJ, Farrer MJ, Appel-Cresswell S. Perrin AJ, et al. Parkinsonism Relat Disord. 2017 Mar;36:93-97. doi: 10.1016/j.parkreldis.2016.12.026. Epub 2016 Dec 29. Parkinsonism Relat Disord. 2017. PMID: 28089265
48 results