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Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?

Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A.

Mol Genet Metab. 2019 Dec;128(4):470-475. doi: 10.1016/j.ymgme.2019.10.001. Epub 2019 Oct 13.


Hierarchical Data-Driven Analysis of Clinical Symptoms Among Patients With Parkinson's Disease.

Kozlovski T, Mitelpunkt A, Thaler A, Gurevich T, Orr-Urtreger A, Gana-Weisz M, Shachar N, Galili T, Marcus-Kalish M, Bressman S, Marder K, Giladi N, Benjamini Y, Mirelman A.

Front Neurol. 2019 May 21;10:531. doi: 10.3389/fneur.2019.00531. eCollection 2019.


Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.

Goldstein O, Kedmi M, Gana-Weisz M, Twito S, Nefussy B, Vainer B, Fainmesser Y, Abraham A, Nayshool O, Orr-Urtreger A, Drory VE.

J Neurol Sci. 2019 Jul 15;402:62-68. doi: 10.1016/j.jns.2019.05.006. Epub 2019 May 8.


The role of the nAChR subunits α5, β2, and β4 on synaptic transmission in the mouse superior cervical ganglion.

Simeone X, Karch R, Ciuraszkiewicz A, Orr-Urtreger A, Lemmens-Gruber R, Scholze P, Huck S.

Physiol Rep. 2019 Mar;7(6):e14023. doi: 10.14814/phy2.14023.


Network abnormalities among non-manifesting Parkinson disease related LRRK2 mutation carriers.

Jacob Y, Rosenberg-Katz K, Gurevich T, Helmich RC, Bloem BR, Orr-Urtreger A, Giladi N, Mirelman A, Hendler T, Thaler A.

Hum Brain Mapp. 2019 Jun 1;40(8):2546-2555. doi: 10.1002/hbm.24543. Epub 2019 Feb 21.


Distinguishing Dementia With Lewy Bodies From Alzheimer 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 Jul-Sep;33(3):279-281. doi: 10.1097/WAD.0000000000000283.


Single cell dissection of plasma cell heterogeneity in symptomatic and asymptomatic myeloma.

Ledergor G, Weiner A, Zada M, Wang SY, Cohen YC, Gatt ME, Snir N, Magen H, Koren-Michowitz M, Herzog-Tzarfati K, Keren-Shaul H, Bornstein C, Rotkopf R, Yofe I, David E, Yellapantula V, Kay S, Salai M, Ben Yehuda D, Nagler A, Shvidel L, Orr-Urtreger A, Halpern KB, Itzkovitz S, Landgren O, San-Miguel J, Paiva B, Keats JJ, Papaemmanuil E, Avivi I, Barbash GI, Tanay A, Amit I.

Nat Med. 2018 Dec;24(12):1867-1876. doi: 10.1038/s41591-018-0269-2. Epub 2018 Dec 6.


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.


Altered reward-related neural responses in non-manifesting carriers of the Parkinson disease related LRRK2 mutation.

Thaler A, Gonen T, Mirelman A, Helmich RC, Gurevich T, Orr-Urtreger A, Bloem BR, Giladi N, Hendler T; LRRK2 Ashkenazi Jewish consortium.

Brain Imaging Behav. 2019 Aug;13(4):1009-1020. doi: 10.1007/s11682-018-9920-2.


Cerebral Imaging Markers of GBA and LRRK2 Related Parkinson's Disease and Their First-Degree Unaffected Relatives.

Thaler A, Kliper E, Maidan I, Herman T, Rosenberg-Katz K, Bregman N, Gurevich T, Shiner T, Hausdorff JM, Orr-Urtreger A, Giladi N, Mirelman A.

Brain Topogr. 2018 Nov;31(6):1029-1036. doi: 10.1007/s10548-018-0653-8. Epub 2018 May 30.


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.


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.


Progression in the LRRK2-Asssociated Parkinson Disease Population.

Saunders-Pullman R, Mirelman A, Alcalay RN, Wang C, Ortega RA, Raymond D, Mejia-Santana H, Orbe-Reilly M, Johannes BA, Thaler A, Ozelius L, Orr-Urtreger A, Marder KS, Giladi N, Bressman SB; LRRK2 Ashkenazi Jewish Consortium.

JAMA Neurol. 2018 Mar 1;75(3):312-319. doi: 10.1001/jamaneurol.2017.4019. Erratum in: JAMA Neurol. 2018 Jun 1;75(6):763.


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.


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.


Estimation of genetic risk function with covariates in the presence of missing genotypes.

Lee AJ, Marder K, Alcalay RN, Mejia-Santana H, Orr-Urtreger A, Giladi N, Bressman S, Wang Y.

Stat Med. 2017 Sep 30;36(22):3533-3546. doi: 10.1002/sim.7376. Epub 2017 Jun 27.


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.


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.


Arm swing as a potential new prodromal marker of Parkinson's disease.

Mirelman A, Bernad-Elazari H, Thaler A, Giladi-Yacobi E, Gurevich T, Gana-Weisz M, Saunders-Pullman R, Raymond D, Doan N, Bressman SB, Marder KS, Alcalay RN, Rao AK, Berg D, Brockmann K, Aasly J, Waro BJ, Tolosa E, Vilas D, Pont-Sunyer C, Orr-Urtreger A, Hausdorff JM, Giladi N.

Mov Disord. 2016 Oct;31(10):1527-1534. doi: 10.1002/mds.26720.


A cognitive fMRI study in non-manifesting LRRK2 and GBA carriers.

Bregman N, Thaler A, Mirelman A, Helmich RC, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Giladi N; LRRK2 Ashkenazi Jewish consortium.

Brain Struct Funct. 2017 Apr;222(3):1207-1218. doi: 10.1007/s00429-016-1271-4. Epub 2016 Jul 11.


A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis.

Giladi N, Mirelman A, Thaler A, Orr-Urtreger A.

Front Neurol. 2016 May 10;7:71. doi: 10.3389/fneur.2016.00071. eCollection 2016.


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.


OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A.

Neurology. 2016 Feb 2;86(5):446-53. doi: 10.1212/WNL.0000000000002334. Epub 2016 Jan 6.


A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L.

Mol Genet Metab. 2016 Jan;117(1):38-41. doi: 10.1016/j.ymgme.2015.11.011. Epub 2015 Nov 26.


Intact working memory in non-manifesting LRRK2 carriers--an fMRI study.

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

Eur J Neurosci. 2016 Jan;43(1):106-12. doi: 10.1111/ejn.13120. Epub 2015 Dec 18.


Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data.

Wang Y, Liang B, Tong X, Marder K, Bressman S, Orr-Urtreger A, Giladi N, Zeng D.

Biometrika. 2015 Sep 1;102(3):515-532.


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.


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.


The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.

Gan-Or Z, Orr-Urtreger A, Alcalay RN, Bressman S, Giladi N, Rouleau GA.

Parkinsonism Relat Disord. 2015 Oct;21(10):1294-5. doi: 10.1016/j.parkreldis.2015.08.018. Epub 2015 Aug 20.


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.


Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.

Marder K, Wang Y, Alcalay RN, Mejia-Santana H, Tang MX, Lee A, Raymond D, Mirelman A, Saunders-Pullman R, Clark L, Ozelius L, Orr-Urtreger A, Giladi N, Bressman S; LRRK2 Ashkenazi Jewish Consortium.

Neurology. 2015 Jul 7;85(1):89-95. doi: 10.1212/WNL.0000000000001708. Epub 2015 Jun 10.


LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.

Gan-Or Z, Leblond CS, Mallett V, Orr-Urtreger A, Dion PA, Rouleau GA.

Parkinsonism Relat Disord. 2015 Jul;21(7):778-82. doi: 10.1016/j.parkreldis.2015.05.002. Epub 2015 May 5.


A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL.

Clin Genet. 2015 Jul;88(1):e1-4. doi: 10.1111/cge.12605. Epub 2015 May 28.


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.


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.


Role of α5-containing nicotinic receptors in neuropathic pain and response to nicotine.

Xanthos DN, Beiersdorf JW, Thrun A, Ianosi B, Orr-Urtreger A, Huck S, Scholze P.

Neuropharmacology. 2015 Aug;95:37-49. doi: 10.1016/j.neuropharm.2015.02.012. Epub 2015 Feb 25.


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.


Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers.

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

Neurology. 2015 Jan 27;84(4):399-406. doi: 10.1212/WNL.0000000000001189. Epub 2014 Dec 24.


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.

Parkinsonism Relat Disord. 2015 Feb;21(2):106-10. doi: 10.1016/j.parkreldis.2014.09.033. Epub 2014 Nov 20.


Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.

Agalliu I, San Luciano M, Mirelman A, Giladi N, Waro B, Aasly J, Inzelberg R, Hassin-Baer S, Friedman E, Ruiz-Martinez J, Marti-Masso JF, Orr-Urtreger A, Bressman S, Saunders-Pullman R.

JAMA Neurol. 2015 Jan;72(1):58-65. doi: 10.1001/jamaneurol.2014.1973.


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. 2015 Apr;24(2):238-46. doi: 10.1007/s10897-014-9756-x. Epub 2014 Aug 17.


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.


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 Dec;171(23):5209-24. doi: 10.1111/bph.12841. Epub 2014 Sep 5.


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 Dec;16(12):940-4. doi: 10.1038/gim.2014.64. Epub 2014 May 29.


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.


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.


Author response.

Orr-Urtreger A, Gan-Or Z.

Neurology. 2014 Jan 21;82(3):283. No abstract available.


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.


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.


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.

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