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Items: 1 to 50 of 75

1.

Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?

Bregman N, Kavé G, Mirelman A, Thaler A, Gana Weisz M, Bar-Shira A, Orr-Urtreger A, Giladi N, Shiner T.

Alzheimer Dis Assoc Disord. 2019 Jan 10. doi: 10.1097/WAD.0000000000000283. [Epub ahead of print]

PMID:
30640255
2.

Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.

Sagi-Dain L, Singer A, Josefsberg S, Peleg A, Lev D, Samra NN, Bar-Shira A, Zeligson S, Maya I, Ben-Shachar S.

Ultrasound Obstet Gynecol. 2019 Jun;53(6):810-815. doi: 10.1002/uog.20208.

PMID:
30584678
3.

Survival rates among Parkinson's disease patients who carry mutations in the LRRK2 and GBA genes.

Thaler A, Kozlovski T, Gurevich T, Bar-Shira A, Gana-Weisz M, Orr-Urtreger A, Giladi N, Mirelman A.

Mov Disord. 2018 Oct;33(10):1656-1660. doi: 10.1002/mds.27490. Epub 2018 Oct 4.

PMID:
30288804
4.

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.

Thaler A, Bregman N, Gurevich T, Shiner T, Dror Y, Zmira O, Gan-Or Z, Bar-Shira A, Gana-Weisz M, Orr-Urtreger A, Giladi N, Mirelman A.

Parkinsonism Relat Disord. 2018 Oct;55:45-49. doi: 10.1016/j.parkreldis.2018.05.009. Epub 2018 May 17.

PMID:
29784561
5.

Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.

Mirelman A, Saunders-Pullman R, Alcalay RN, Shustak S, Thaler A, Gurevich T, Raymond D, Mejia-Santana H, Orbe Reilly M, Ozelius L, Clark L, Gana-Weisz M, Bar-Shira A, Orr-Utreger A, Bressman SB, Marder K, Giladi N; AJ LRRK2 Consortium.

Mov Disord. 2018 Jul;33(6):966-973. doi: 10.1002/mds.27342. Epub 2018 Mar 30.

PMID:
29603409
6.

Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature.

Sagi-Dain L, Singer A, Hadid Y, Sharony R, Vinkler C, Bar-Shira A, Segel R, Ben Shachar S, Maya I.

J Matern Fetal Neonatal Med. 2019 Aug;32(16):2643-2648. doi: 10.1080/14767058.2018.1443070. Epub 2018 Feb 28.

PMID:
29455582
7.

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

Goldstein O, Gana-Weisz M, Nefussy B, Vainer B, Nayshool O, Bar-Shira A, Traynor BJ, Drory VE, Orr-Urtreger A.

Neurobiol Aging. 2018 Apr;64:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2017.12.015. Epub 2017 Dec 27.

8.

Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis.

Brabbing-Goldstein D, Reches A, Svirsky R, Bar-Shira A, Yaron Y.

Am J Obstet Gynecol. 2018 Feb;218(2):247.e1-247.e12. doi: 10.1016/j.ajog.2017.11.559. Epub 2017 Nov 14.

PMID:
29146387
9.

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

Ben-Shachar S, Afawi Z, Masalha R, Badarny S, Neiman T, Pavzner D, Bar-Shira A, Orr-Urtreger A.

J Mol Neurosci. 2017 Oct;63(2):216-222. doi: 10.1007/s12031-017-0972-3. Epub 2017 Sep 15.

PMID:
28913705
10.

Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites.

Zitser J, Thaler A, Inbar N, Gad A, Faust-Socher A, Paleacu D, Anca-Herschkovitch M, Balash Y, Shabtai H, Ash EL, Merkin L, Manor Y, Kestenbaum M, Bar David A, Peretz C, Naiman T, Bar-Shira A, Orr-Urtreger A, Dangoor N, Giladi N, Gurevich T.

Neurodegener Dis. 2017;17(6):281-285. doi: 10.1159/000479375. Epub 2017 Aug 25.

PMID:
28848105
11.

Association of aberrant right subclavian artery with abnormal karyotype and microarray results.

Svirsky R, Reches A, Brabbing-Goldstein D, Bar-Shira A, Yaron Y.

Prenat Diagn. 2017 Aug;37(8):808-811. doi: 10.1002/pd.5092. Epub 2017 Jul 12.

PMID:
28618053
12.

A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

Thaler A, Gurevich T, Bar Shira A, Gana Weisz M, Ash E, Shiner T, Orr-Urtreger A, Giladi N, Mirelman A.

Parkinsonism Relat Disord. 2017 Mar;36:47-51. doi: 10.1016/j.parkreldis.2016.12.014. Epub 2016 Dec 16.

PMID:
28012950
13.

High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.

Shiner T, Mirelman A, Gana Weisz M, Bar-Shira A, Ash E, Cialic R, Nevler N, Gurevich T, Bregman N, Orr-Urtreger A, Giladi N.

JAMA Neurol. 2016 Dec 1;73(12):1448-1453. doi: 10.1001/jamaneurol.2016.1593.

PMID:
27723861
14.

SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain.

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

J Mol Neurosci. 2016 Jul;59(3):343-50. doi: 10.1007/s12031-016-0738-3. Epub 2016 Apr 26.

PMID:
27115672
15.

Down-regulation of B cell-related genes in peripheral blood leukocytes of Parkinson's disease patients with and without GBA mutations.

Kobo H, Bar-Shira A, Dahary D, Gan-Or Z, Mirelman A, Goldstein O, Giladi N, Orr-Urtreger A.

Mol Genet Metab. 2016 Feb;117(2):179-85. doi: 10.1016/j.ymgme.2015.09.005. Epub 2015 Sep 14.

PMID:
26410072
16.

Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

Simon-Tov S, Dinur T, Giladi N, Bar-Shira A, Zelis M, Zimran A, Elstein D.

J Parkinsons Dis. 2015;5(3):525-31. doi: 10.3233/JPD-150585.

PMID:
26406132
17.

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.

Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Högl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N, Rouleau GA.

Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.

18.

The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease.

Gan-Or Z, Amshalom I, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A.

J Neurol. 2015 Nov;262(11):2443-7. doi: 10.1007/s00415-015-7868-3. Epub 2015 Aug 2.

PMID:
26233692
19.

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.

Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17.

20.

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.

Mov Disord. 2015 Jun;30(7):981-6. doi: 10.1002/mds.26213. Epub 2015 Mar 21.

21.

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.

Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.

22.

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.

23.

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
24.

Microscopic chromosome Xp distal deletions--a challenging issue in prenatal genetic counseling.

Sukenik-Halevy R, Reches A, Bar-Shira A, Simchoni S, Goldstein M, Orr-Ortreger A, Yaron Y, Ben-Shachar S.

Prenat Diagn. 2014 Jun;34(6):592-7. doi: 10.1002/pd.4354. Epub 2014 Mar 25.

PMID:
24609917
25.

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.

26.

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
27.

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.

28.

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
29.

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
30.

HIF1A C1772T polymorphism leads to HIF-1α mRNA overexpression in prostate cancer patients.

Vainrib M, Golan M, Amir S, Dang DT, Dang LH, Bar-Shira A, Orr-Urtreger A, Matzkin H, Mabjeesh NJ.

Cancer Biol Ther. 2012 Jul;13(9):720-6. Epub 2012 May 31.

PMID:
22647679
31.

Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk.

Gan-Or Z, Bar-Shira A, Dahary D, Mirelman A, Kedmi M, Gurevich T, Giladi N, Orr-Urtreger A.

Arch Neurol. 2012 Jan;69(1):105-10. doi: 10.1001/archneurol.2011.924.

PMID:
22232350
32.

Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease.

Kedmi M, Bar-Shira A, Gurevich T, Giladi N, Orr-Urtreger A.

Mol Neurodegener. 2011 Sep 23;6:66. doi: 10.1186/1750-1326-6-66.

33.

The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction.

Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Giladi N, Orr-Urtreger A.

J Mol Neurosci. 2012 Mar;46(3):541-4. doi: 10.1007/s12031-011-9641-0. Epub 2011 Sep 6.

PMID:
21898123
34.

Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.

Gan-Or Z, Bar-Shira A, Gurevich T, Giladi N, Orr-Urtreger A.

Neurogenetics. 2011 Nov;12(4):325-32. doi: 10.1007/s10048-011-0293-6. Epub 2011 Aug 12.

PMID:
21837367
35.

Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease.

Giladi N, Mirelman A, Thaler A, Bar-Shira A, Gurevich T, Orr-Urtreger A.

J Neurol Sci. 2011 Nov 15;310(1-2):17-20. doi: 10.1016/j.jns.2011.06.005. Epub 2011 Jun 25.

PMID:
21704337
36.

Gait alterations in healthy carriers of the LRRK2 G2019S mutation.

Mirelman A, Gurevich T, Giladi N, Bar-Shira A, Orr-Urtreger A, Hausdorff JM.

Ann Neurol. 2011 Jan;69(1):193-7. doi: 10.1002/ana.22165.

PMID:
21280089
37.

Candidate-gene approach in fibromyalgia syndrome: association analysis of the genes encoding substance P receptor, dopamine transporter and alpha1-antitrypsin.

Ablin JN, Bar-Shira A, Yaron M, Orr-Urtreger A.

Clin Exp Rheumatol. 2009 Sep-Oct;27(5 Suppl 56):S33-8.

PMID:
20074437
38.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2.

PMID:
20197411
39.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG.

N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

40.

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Kedmi M, Giladi N, Orr-Urtreger A.

Neurogenetics. 2010 Feb;11(1):121-5. doi: 10.1007/s10048-009-0198-9. Epub 2009 May 21.

PMID:
19458969
41.

Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.

Bar-Shira A, Hutter CM, Giladi N, Zabetian CP, Orr-Urtreger A.

Neurogenetics. 2009 Oct;10(4):355-8. doi: 10.1007/s10048-009-0186-0. Epub 2009 Mar 13.

PMID:
19283415
42.

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.

Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A.

Neurology. 2008 Jun 10;70(24):2277-83. doi: 10.1212/01.wnl.0000304039.11891.29. Epub 2008 Apr 23.

PMID:
18434642
43.

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

Orr-Urtreger A, Shifrin C, Rozovski U, Rosner S, Bercovich D, Gurevich T, Yagev-More H, Bar-Shira A, Giladi N.

Neurology. 2007 Oct 16;69(16):1595-602.

PMID:
17938369
44.

Functional analysis of the Aurora Kinase A Ile31 allelic variant in human prostate.

Matarasso N, Bar-Shira A, Rozovski U, Rosner S, Orr-Urtreger A.

Neoplasia. 2007 Sep;9(9):707-15.

45.

Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype.

Rozovski U, Jonish-Grossman A, Bar-Shira A, Ochshorn Y, Goldstein M, Yaron Y.

Hum Reprod. 2007 Sep;22(9):2538-45. Epub 2007 Jul 17.

PMID:
17635843
46.
47.

Array-based comparative genome hybridization in clinical genetics.

Bar-Shira A, Rosner G, Rosner S, Goldstein M, Orr-Urtreger A.

Pediatr Res. 2006 Sep;60(3):353-8. Epub 2006 Jul 20.

PMID:
16857771
48.
49.

Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6.

Bar-Shira A, Matarasso N, Rosner S, Bercovich D, Matzkin H, Orr-Urtreger A.

Prostate. 2006 Jul 1;66(10):1052-60.

PMID:
16598737
50.

RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients.

Orr-Urtreger A, Bar-Shira A, Bercovich D, Matarasso N, Rozovsky U, Rosner S, Soloviov S, Rennert G, Kadouri L, Hubert A, Rennert H, Matzkin H.

Cancer Epidemiol Biomarkers Prev. 2006 Mar;15(3):474-9.

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