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Results: 1 to 20 of 138

1.

Interest in Genetic Testing in Ashkenazi Jewish Parkinson's Disease Patients and Their Unaffected Relatives.

Gupte M, Alcalay RN, Mejia-Santana H, Raymond D, Saunders-Pullman R, Roos E, Orbe-Reily M, Tang MX, Mirelman A, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, Marder K.

J Genet Couns. 2014 Aug 17. [Epub ahead of print]

PMID:
25127731
[PubMed - as supplied by publisher]
2.

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.

Alcalay RN, Aasly J, Berg D, Bressman S, Brice A, Brockmann K, Chan P, Clark L, Cormier F, Corvol JC, Durr A, Facheris M, Farrer M, Foroud TM, Gasser T, Giladi N, Halter C, Lang A, Langston JW, Marras C, Marti-Masso JF, Ruiz Martinez J, Mejia-Santana H, Mirelman A, Pont-Sunyer C, Orr-Urtreger A, Raymond D, Saunders-Pullman R, Schüle B, Tanner C, Tolosa E, Urkowitz A, Vilas D, Wise A, Marder K.

Genet Med. 2014 Aug;16(8):644-5. doi: 10.1038/gim.2014.55. No abstract available.

PMID:
25093570
[PubMed - in process]
3.

Nicotinic acetylcholine receptors control acetylcholine and noradrenaline release in the rodent habenulo-interpeduncular complex.

Beiranvand F, Zlabinger C, Orr-Urtreger A, Ristl R, Huck S, Scholze P.

Br J Pharmacol. 2014 Jul 9. doi: 10.1111/bph.12841. [Epub ahead of print]

PMID:
25041479
[PubMed - as supplied by publisher]
4.

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Weiss K, Orr-Urtreger A, Kaplan Ber I, Naiman T, Shomrat R, Bardugu E, Yaron Y, Ben-Shachar S.

Genet Med. 2014 May 29. doi: 10.1038/gim.2014.64. [Epub ahead of print]

PMID:
24875300
[PubMed - as supplied by publisher]
5.

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.

Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19.

PMID:
24842889
[PubMed - in process]
6.

CHRNB3 c.-57A>G functional promoter change affects Parkinson's disease and smoking.

Bar-Shira A, Gana-Weisz M, Gan-Or Z, Giladi E, Giladi N, Orr-Urtreger A.

Neurobiol Aging. 2014 Sep;35(9):2179.e1-6. doi: 10.1016/j.neurobiolaging.2014.03.014. Epub 2014 Mar 20.

PMID:
24731518
[PubMed - in process]
7.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR.

Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13.

PMID:
24530202
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

PMID:
24509297
[PubMed - in process]
9.

Two novel mutations identified in familial cases with Donohue syndrome.

Falik Zaccai TC, Kalfon L, Klar A, Elisha MB, Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E.

Mol Genet Genomic Med. 2014 Jan;2(1):64-72. doi: 10.1002/mgg3.43. Epub 2013 Nov 14.

PMID:
24498630
[PubMed]
Free PMC Article
10.

A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers.

Thaler A, Artzi M, Mirelman A, Jacob Y, Helmich RC, van Nuenen BF, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Hendler T, Giladi N, Ben Bashat D; LRRK2 Ashkenazi Jewish Consortium.

Mov Disord. 2014 May;29(6):823-7. doi: 10.1002/mds.25827. Epub 2014 Jan 30.

PMID:
24482120
[PubMed - in process]
11.

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.

Mov Disord. 2013 Dec;28(14):1966-71. doi: 10.1002/mds.25647. Epub 2013 Oct 15.

PMID:
24243757
[PubMed - indexed for MEDLINE]
12.

Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.

Mirelman A, Heman T, Yasinovsky K, Thaler A, Gurevich T, Marder K, Bressman S, Bar-Shira A, Orr-Urtreger A, Giladi N, Hausdorff JM; LRRK2 Ashkenazi Jewish Consortium.

Mov Disord. 2013 Oct;28(12):1683-90. doi: 10.1002/mds.25587. Epub 2013 Oct 7.

PMID:
24123150
[PubMed - indexed for MEDLINE]
13.

Single-channel properties of α3β4, α3β4α5 and α3β4β2 nicotinic acetylcholine receptors in mice lacking specific nicotinic acetylcholine receptor subunits.

Ciuraszkiewicz A, Schreibmayer W, Platzer D, Orr-Urtreger A, Scholze P, Huck S.

J Physiol. 2013 Jul 1;591(Pt 13):3271-88. doi: 10.1113/jphysiol.2012.246595. Epub 2013 Apr 22.

PMID:
23613527
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27.

PMID:
23535491
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers.

Thaler A, Mirelman A, Helmich RC, van Nuenen BF, Rosenberg-Katz K, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Giladi N, Hendler T; LRRK2 Ashkenazi Jewish consortium.

Cortex. 2013 Oct;49(9):2501-11. doi: 10.1016/j.cortex.2012.12.017. Epub 2013 Jan 7.

PMID:
23357204
[PubMed - indexed for MEDLINE]
16.

Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.

van Nuenen BF, Helmich RC, Ferraye M, Thaler A, Hendler T, Orr-Urtreger A, Mirelman A, Bressman S, Marder KS, Giladi N, van de Warrenburg BP, Bloem BR, Toni I; LRRK2 Ashkenazi Jewish Consortium.

Brain. 2012 Dec;135(Pt 12):3687-98. doi: 10.1093/brain/aws288.

PMID:
23250886
[PubMed - indexed for MEDLINE]
Free Article
17.

Undetected sex chromosome aneuploidy by chromosomal microarray.

Markus-Bustani K, Yaron Y, Goldstein M, Orr-Urtreger A, Ben-Shachar S.

Prenat Diagn. 2012 Nov;32(11):1117-8. doi: 10.1002/pd.3979. Epub 2012 Oct 4.

PMID:
23034780
[PubMed - indexed for MEDLINE]
18.

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A.

Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18.

PMID:
22947400
[PubMed - indexed for MEDLINE]
19.

Tnfα, Cox2 and AdipoQ adipokine gene expression levels are modulated in murine adipose tissues by both nicotine and nACh receptors containing the β2 subunit.

Gochberg-Sarver A, Kedmi M, Gana-Weisz M, Bar-Shira A, Orr-Urtreger A.

Mol Genet Metab. 2012 Nov;107(3):561-70. doi: 10.1016/j.ymgme.2012.08.012. Epub 2012 Aug 18.

PMID:
22926197
[PubMed - indexed for MEDLINE]
20.

Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.

Thaler A, Mirelman A, Gurevich T, Simon E, Orr-Urtreger A, Marder K, Bressman S, Giladi N; LRRK2 Ashkenazi Jewish Consortium.

Neurology. 2012 Sep 4;79(10):1027-32. Epub 2012 Aug 22.

PMID:
22914834
[PubMed - indexed for MEDLINE]
Free PMC Article

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