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PARK16 locus: Differential effects of the non-coding rs823114 on Parkinson's disease risk, RNA expression, and DNA methylation.
Goldstein O, Gana-Weisz M, Casey F, Meltzer-Fridrich H, Yaacov O, Waldman YY, Lin D, Mordechai Y, Zhu J, Cullen PF, Omer N, Shiner T, Thaler A, Bar-Shira A, Mirelman A, John S, Giladi N, Orr-Urtreger A. Goldstein O, et al. J Genet Genomics. 2021 Apr 20;48(4):341-345. doi: 10.1016/j.jgg.2020.10.010. Epub 2021 Jan 29. J Genet Genomics. 2021. PMID: 33736926 No abstract available.
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. Gan-Or Z, et al. Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27. Neurology. 2013. PMID: 23535491 Free PMC article.
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, Roos E, Orbe-Reilly M, Gurevich T, Bar Shira A, Gana Weisz M, Yasinovsky K, Zalis M, Thaler A, Deik A, Barrett MJ, Cabassa J, Groves M, Hunt AL, Lubarr N, San Luciano M, Miravite J, Palmese C, Sachdev R, Sarva H, Severt L, Shanker V, Swan MC, Soto-Valencia J, Johannes B, Ortega R, Fahn S, Cote L, Waters C, Mazzoni P, Ford B, Louis E, Levy O, Rosado L, Ruiz D, Dorovski T, Pauciulo M, Nichols W, Orr-Urtreger A, Ozelius L, Clark L, Giladi N, Bressman S, Marder KS. Alcalay RN, et al. Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647. Epub 2013 Oct 15. Mov Disord. 2013. PMID: 24243757 Free PMC article.
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A. Vacic V, et al. Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19. Hum Mol Genet. 2014. PMID: 24842889 Free PMC article.
Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.
Alcalay RN, Mejia-Santana H, Mirelman A, Saunders-Pullman R, Raymond D, Palmese C, Caccappolo E, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, Marder K; LRRK2 Ashkenazi Jewish Consortium. Alcalay RN, et al. Parkinsonism Relat Disord. 2015 Feb;21(2):106-10. doi: 10.1016/j.parkreldis.2014.09.033. Epub 2014 Nov 20. Parkinsonism Relat Disord. 2015. PMID: 25434972 Free PMC article.
Differential effects of severe vs mild GBA mutations on Parkinson disease.
Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A. Gan-Or Z, et al. Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653295 Free PMC article.
Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.
Mirelman A, Alcalay RN, Saunders-Pullman R, Yasinovsky K, Thaler A, Gurevich T, Mejia-Santana H, Raymond D, Gana-Weisz M, Bar-Shira A, Ozelius L, Clark L, Orr-Urtreger A, Bressman S, Marder K, Giladi N; LRRK2 AJ consortium. Mirelman A, et al. Mov Disord. 2015 Jun;30(7):981-6. doi: 10.1002/mds.26213. Epub 2015 Mar 21. Mov Disord. 2015. PMID: 25809001 Free PMC article.
Genetic markers of Restless Legs Syndrome in Parkinson disease.
Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Gan-Or Z, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17. Parkinsonism Relat Disord. 2015. PMID: 25817513 Free PMC article.
55 results