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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. Among authors: siuda j. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.
Medway CW, Abdul-Hay S, Mims T, Ma L, Bisceglio G, Zou F, Pankratz S, Sando SB, Aasly JO, Barcikowska M, Siuda J, Wszolek ZK, Ross OA, Carrasquillo M, Dickson DW, Graff-Radford N, Petersen RC, Ertekin-Taner N, Morgan K, Bu G, Younkin SG. Medway CW, et al. Among authors: siuda j. Mol Neurodegener. 2014 Mar 10;9:11. doi: 10.1186/1750-1326-9-11. Mol Neurodegener. 2014. PMID: 24607147 Free PMC article.
Parkinsonian syndrome in familial frontotemporal dementia.
Siuda J, Fujioka S, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Sep;20(9):957-64. doi: 10.1016/j.parkreldis.2014.06.004. Epub 2014 Jun 13. Parkinsonism Relat Disord. 2014. PMID: 24998994 Free PMC article. Review.
Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study.
Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodière EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK. Siuda J, et al. Parkinsonism Relat Disord. 2014 Nov;20(11):1274-8. doi: 10.1016/j.parkreldis.2014.08.019. Epub 2014 Sep 2. Parkinsonism Relat Disord. 2014. PMID: 25226871 Free PMC article.
Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.
Puschmann A, Brighina L, Markopoulou K, Aasly J, Chung SJ, Frigerio R, Hadjigeorgiou G, Kõks S, Krüger R, Siuda J, Wider C, Zesiewicz TA, Maraganore DM. Puschmann A, et al. Among authors: siuda j. Parkinsonism Relat Disord. 2015 Jul;21(7):675-82. doi: 10.1016/j.parkreldis.2015.04.029. Epub 2015 May 1. Parkinsonism Relat Disord. 2015. PMID: 25952959 Review.
79 results