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Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ. Ross OA, et al. Parkinsonism Relat Disord. 2008 Nov;14(7):544-7. doi: 10.1016/j.parkreldis.2008.07.002. Epub 2008 Aug 22. Parkinsonism Relat Disord. 2008. PMID: 18722802 Free PMC article.
Genetic variation of Omi/HtrA2 and Parkinson's disease.
Ross OA, Soto AI, Vilariño-Güell C, Heckman MG, Diehl NN, Hulihan MM, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ. Ross OA, et al. Parkinsonism Relat Disord. 2008 Nov;14(7):539-43. doi: 10.1016/j.parkreldis.2008.08.003. Epub 2008 Sep 14. Parkinsonism Relat Disord. 2008. PMID: 18790661 Free PMC article.
ATP13A2 variability in Parkinson disease.
Vilariño-Güell C, Soto AI, Lincoln SJ, Ben Yahmed S, Kefi M, Heckman MG, Hulihan MM, Chai H, Diehl NN, Amouri R, Rajput A, Mash DC, Dickson DW, Middleton LT, Gibson RA, Hentati F, Farrer MJ. Vilariño-Güell C, et al. Hum Mutat. 2009 Mar;30(3):406-10. doi: 10.1002/humu.20877. Hum Mutat. 2009. PMID: 19085912 Free PMC article.
DCTN1 mutations in Perry syndrome.
Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. Farrer MJ, et al. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136952 Free PMC article.
117 results