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Items: 1 to 20 of 33


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.


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.


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.


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.


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.


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.


Corrigendum: The histone H2B-specific ubiquitin ligase RNF20/hBRE1 acts as a putative tumor suppressor through selective regulation of gene expression.

Shema E, Tirosh I, Aylon Y, Huang J, Ye C, Moskovits N, Raver-Shapira N, Minsky N, Pirngruber J, Tarcic G, Hublarova P, Moyal L, Gana-Weisz M, Shiloh Y, Yarden Y, Johnsen SA, Vojtesek B, Berger SL, Oren M.

Genes Dev. 2017 Sep 15;31(18):1926. doi: 10.1101/gad.307207.117. No abstract available.


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.


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.


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.


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.


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.


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.

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