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Items: 1 to 20 of 163

1.

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. 2016 Dec 16. pii: S1353-8020(16)30495-3. doi: 10.1016/j.parkreldis.2016.12.014. [Epub ahead of print]

PMID:
28012950
2.

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
3.

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.

4.

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. 2016 Jul 11. [Epub ahead of print]

PMID:
27401793
5.

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.

6.

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.

PMID:
27115672
7.

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.

8.

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.

PMID:
26653794
9.

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.

PMID:
26536050
10.

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.

11.

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.

PMID:
26410072
12.

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.

13.

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.

PMID:
26320887
14.

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.

PMID:
26233692
15.

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.

16.

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.

PMID:
25962553
17.

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.

PMID:
25930971
18.

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.

19.

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.

20.

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.

PMID:
25725336
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