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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: stoessl aj. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
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: stoessl aj. 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
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. Among authors: stoessl aj. 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. Among authors: stoessl aj. Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12. Mov Disord. 2015. PMID: 25393719
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. Among authors: stoessl aj. 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
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW. Wszolek ZK, et al. Among authors: stoessl aj. Neurology. 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. Neurology. 2004. PMID: 15136696
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK. Puschmann A, et al. Among authors: stoessl aj. Neurology. 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42. Neurology. 2011. PMID: 21555728 Free PMC article.
283 results