Avi Orr-Urtreger

Avi Orr-Urtreger

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Avi Orr-Urtreger

Avi Orr-Urtreger

Publications by authors named "Avi Orr-Urtreger"

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

J Neurol Sci 2019 Jul 8;402:62-68. Epub 2019 May 8.

Neuromuscular Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.jns.2019.05.006DOI Listing
July 2019

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

Hum Brain Mapp 2019 Jun 21;40(8):2546-2555. Epub 2019 Feb 21.

Sagol Brain Institute Tel-Aviv Medical Center, Tel-Aviv, Israel.

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http://doi.wiley.com/10.1002/hbm.24543
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http://dx.doi.org/10.1002/hbm.24543DOI Listing
June 2019

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

Physiol Rep 2019 Mar;7(6):e14023

Division of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.14814/phy2.14023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424856PMC
March 2019

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

Parkinsonism Relat Disord 2018 10 17;55:45-49. Epub 2018 May 17.

Sackler School of Medicine, Tel-Aviv University, Israel; Sagol School of Neuroscience, Tel-Aviv University, Israel; Laboratory of Early Markers of Neurodegeneration, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2018.05.009DOI Listing
October 2018

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

Mov Disord 2018 10 4;33(10):1656-1660. Epub 2018 Oct 4.

Movement Disorders Unit, Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/mds.27490DOI Listing
October 2018

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

Neurobiol Aging 2018 04 27;64:160.e1-160.e7. Epub 2017 Dec 27.

The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931221PMC
April 2018

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

J Mol Neurosci 2017 Oct 15;63(2):216-222. Epub 2017 Sep 15.

Tel Aviv Medical Center, The Genetic Institute, 6 Weizmann Street, 6423906, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12031-017-0972-3DOI Listing
October 2017

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

Stat Med 2017 Sep 27;36(22):3533-3546. Epub 2017 Jun 27.

Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, U.S.A.

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http://doi.wiley.com/10.1002/sim.7376
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http://dx.doi.org/10.1002/sim.7376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583003PMC
September 2017

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

Brain Struct Funct 2017 04 11;222(3):1207-1218. Epub 2016 Jul 11.

Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, 6 Weizman Street, 64239, Tel-Aviv, Israel.

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http://dx.doi.org/10.1007/s00429-016-1271-4DOI Listing
April 2017

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

Parkinsonism Relat Disord 2017 03 16;36:47-51. Epub 2016 Dec 16.

Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.parkreldis.2016.12.014DOI Listing
March 2017

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

JAMA Neurol 2016 Dec;73(12):1448-1453

Center for Neurodegeneration, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel2Sagol School for Neuroscience, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1001/jamaneurol.2016.1593DOI Listing
December 2016

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

J Mol Neurosci 2016 Jul 26;59(3):343-50. Epub 2016 Apr 26.

The Genetic Institute, Tel-Aviv Sourasky Medical Center, Weizmann 10, 64239, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12031-016-0738-3DOI Listing
July 2016

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

Front Neurol 2016 10;7:71. Epub 2016 May 10.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.3389/fneur.2016.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4861838PMC
May 2016

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

Mol Genet Metab 2016 Feb 14;117(2):179-85. Epub 2015 Sep 14.

The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.09.005DOI Listing
February 2016

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

Neurology 2016 Feb 6;86(5):446-53. Epub 2016 Jan 6.

From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000002334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773945PMC
February 2016

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

Eur J Neurosci 2016 Jan 18;43(1):106-12. Epub 2015 Dec 18.

Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, 6 Weizman Street, Tel Aviv, 64239, Israel.

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http://dx.doi.org/10.1111/ejn.13120DOI Listing
January 2016

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

Mol Genet Metab 2016 Jan 26;117(1):38-41. Epub 2015 Nov 26.

Sackler School of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2015.11.011DOI Listing
January 2016

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

Parkinsonism Relat Disord 2015 Oct 20;21(10):1294-5. Epub 2015 Aug 20.

Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada; The Department of Human Genetics, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.018DOI Listing
October 2015

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

Ann Clin Transl Neurol 2015 Sep 31;2(9):941-5. Epub 2015 Jul 31.

Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada ; Department of Neurology and Neurosurgery, McGill University Montréal, Quebec, Canada.

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http://dx.doi.org/10.1002/acn3.228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574811PMC
September 2015

Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data.

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

Department of Biostatistics, CB # 7420, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7420, U.S.A.

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http://dx.doi.org/10.1093/biomet/asv030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581539PMC
September 2015

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

Neuropharmacology 2015 Aug 25;95:37-49. Epub 2015 Feb 25.

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Austria. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2015.02.012DOI Listing
August 2015

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

Parkinsonism Relat Disord 2015 Jul 5;21(7):778-82. Epub 2015 May 5.

Montreal Neurological Institute, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.05.002DOI Listing
July 2015

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

Neurology 2015 Jul 10;85(1):89-95. Epub 2015 Jun 10.

From the Departments of Neurology (K.M., R.N.A., H.M.-S., M.-X.T.) and Pathology and Cell Biology (L.C.), and Center for Human Genetics (L.C.), College of Physicians and Surgeons, Columbia University; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (K.M., R.N.A., M.-X.T., L.C.) and Department of Biostatistics, Mailman School of Public Health (Y.W., A.L.), Columbia University, New York; The Alan and Barbara Mirken Department of Neurology (D.R., R.S.-P., S.B.), Beth Israel Medical Center, New York, NY; Movement Disorders Unit, Department of Neurology, Tel Aviv Medical Center (A.M., N.G.), Sackler School of Medicine (A.O.U.), and Sagol School for Neurosciences (A.M., N.G.), Tel Aviv University; School of Health Related Professions (A.M.), Ben Gurion University, Beer Sheba, Israel; Departments of Genetics and Genomic Sciences and Neurology (L.O.), Mount Sinai School of Medicine, New York, NY; and Genetics Institute (A.O.U.), Tel Aviv Sourasky Medical Center, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501942PMC
July 2015

Genetic markers of Restless Legs Syndrome in Parkinson disease.

Parkinsonism Relat Disord 2015 Jun 17;21(6):582-5. Epub 2015 Mar 17.

Montreal Neurological Institute, McGill University, Montreal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441838PMC
June 2015

Differential effects of severe vs mild GBA mutations on Parkinson disease.

Neurology 2015 Mar 4;84(9):880-7. Epub 2015 Feb 4.

From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000131
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http://dx.doi.org/10.1212/WNL.0000000000001315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351661PMC
March 2015

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.

Parkinsonism Relat Disord 2015 Feb 20;21(2):106-10. Epub 2014 Nov 20.

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2014.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306614PMC
February 2015

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

JAMA Neurol 2015 Jan;72(1):58-65

Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York14Department of Neurology, Albert Einstein College of Medicine, Bronx, New York15Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2014.1973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366130PMC
January 2015

Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers.

Neurology 2015 Jan 24;84(4):399-406. Epub 2014 Dec 24.

From the Centre for Cognitive Neuroimaging (R.C.H., I.T.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen; Department of Neurology (R.C.H., B.R.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Movement Disorders Unit, Department of Neurology (A.T., T.G., A.M., N.G.), and Genetic Institute (A.O.-U.), Tel Aviv Sourasky Medical Center; Sackler School of Medicine (A.T., T.G., A.O.-U., N.G.), Tel Aviv University, Israel; Department of Neurology (B.F.L.v.N.), Catharina Hospital, Eindhoven, the Netherlands; Columbia University (K.S.M.), Columbia University Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000001189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336002PMC
January 2015

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

Genet Med 2014 Dec 29;16(12):940-4. Epub 2014 May 29.

Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://www.nature.com/articles/gim201464
Publisher Site
http://dx.doi.org/10.1038/gim.2014.64DOI Listing
December 2014

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

Neurobiol Aging 2014 Sep 20;35(9):2179.e1-6. Epub 2014 Mar 20.

The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.03.014DOI Listing
September 2014

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

Mov Disord 2014 May 30;29(6):823-7. Epub 2014 Jan 30.

Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler School of Medicine, Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/mds.25827DOI Listing
May 2014

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

Am J Hum Genet 2014 Mar 13;94(3):462-9. Epub 2014 Feb 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140005
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http://dx.doi.org/10.1016/j.ajhg.2014.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951935PMC
March 2014

Author response.

Neurology 2014 Jan;82(3):283

Tel Aviv, Israel.

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January 2014

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

Cortex 2013 Oct 7;49(9):2501-11. Epub 2013 Jan 7.

Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2012.12.017DOI Listing
October 2013

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

Mov Disord 2013 Oct 7;28(12):1683-90. Epub 2013 Oct 7.

Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; School of Health-Related Professions, Ben Gurion University, Beer Sheba, Israel.

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http://dx.doi.org/10.1002/mds.25587DOI Listing
October 2013

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

J Physiol 2013 Jul 22;591(13):3271-88. Epub 2013 Apr 22.

Division of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1113/jphysiol.2012.246595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717227PMC
July 2013

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

Mol Genet Metab 2012 Nov 18;107(3):608-10. Epub 2012 Aug 18.

The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120031
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http://dx.doi.org/10.1016/j.ymgme.2012.08.011DOI Listing
November 2012

Undetected sex chromosome aneuploidy by chromosomal microarray.

Prenat Diagn 2012 Nov 4;32(11):1117-8. Epub 2012 Oct 4.

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http://dx.doi.org/10.1002/pd.3979DOI Listing
November 2012

Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.

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

Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Israel.

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http://dx.doi.org/10.1212/WNL.0b013e3182684646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430708PMC
September 2012

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

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

Department of Urology, Meir Medical Center; Kfar Saba, Israel.

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http://www.tandfonline.com/doi/abs/10.4161/cbt.20554
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http://dx.doi.org/10.4161/cbt.20554DOI Listing
July 2012

Sperm epidermal growth factor receptor (EGFR) mediates α7 acetylcholine receptor (AChR) activation to promote fertilization.

J Biol Chem 2012 Jun 10;287(26):22328-40. Epub 2012 May 10.

The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan 52900, Israel.

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http://dx.doi.org/10.1074/jbc.M111.292292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381193PMC
June 2012

Subunit composition of α5-containing nicotinic receptors in the rodent habenula.

J Neurochem 2012 May 20;121(4):551-60. Epub 2012 Mar 20.

Center for Brain Research, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1111/j.1471-4159.2012.07714.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350326PMC
May 2012

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

J Mol Neurosci 2012 Mar 6;46(3):541-4. Epub 2011 Sep 6.

The Genetic Institute, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.

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http://dx.doi.org/10.1007/s12031-011-9641-0DOI Listing
March 2012

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

Arch Neurol 2012 Jan;69(1):105-10

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann St, Tel Aviv 64239, Israel.

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http://dx.doi.org/10.1001/archneurol.2011.924DOI Listing
January 2012

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

J Neurol Sci 2011 Nov 25;310(1-2):17-20. Epub 2011 Jun 25.

Movement Disorders Unit, Department of Neurology, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.jns.2011.06.005DOI Listing
November 2011

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

Neurogenetics 2011 Nov 12;12(4):325-32. Epub 2011 Aug 12.

The Genetic Institute, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel.

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http://dx.doi.org/10.1007/s10048-011-0293-6DOI Listing
November 2011

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

Mol Neurodegener 2011 Sep 23;6:66. Epub 2011 Sep 23.

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel.

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http://dx.doi.org/10.1186/1750-1326-6-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189133PMC
September 2011

α4β2 nicotinic acetylcholine receptors in the early postnatal mouse superior cervical ganglion.

Dev Neurobiol 2011 May;71(5):390-9

Department of Biochemistry and Molecular Biology, Center for Brain Research, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1002/dneu.20870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141087PMC
May 2011

Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia.

Leuk Lymphoma 2011 Apr 16;52(4):642-7. Epub 2011 Feb 16.

Department of Hematology and Bone Marrow Transplantation, Tel-Aviv Sourasky Medical Center, Israel.

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http://dx.doi.org/10.3109/10428194.2010.551571DOI Listing
April 2011

The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency.

Age (Dordr) 2011 Mar 5;33(1):1-13. Epub 2010 Jun 5.

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s11357-010-9155-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063643PMC
March 2011

Large-scale population screening for spinal muscular atrophy: clinical implications.

Genet Med 2011 Feb;13(2):110-4

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/GIM.0b013e3182017c05DOI Listing
February 2011

Gait alterations in healthy carriers of the LRRK2 G2019S mutation.

Ann Neurol 2011 Jan;69(1):193-7

Movement Disorders Unit, Department of NeurologyTel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/ana.22165DOI Listing
January 2011

False-positive results using a Gaucher diagnostic kit--RecTL and N370S.

Mol Genet Metab 2010 May 4;100(1):100-2. Epub 2010 Jan 4.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854310PMC
May 2010

Biochemical and functional properties of distinct nicotinic acetylcholine receptors in the superior cervical ganglion of mice with targeted deletions of nAChR subunit genes.

Eur J Neurosci 2010 Mar 3;31(6):978-93. Epub 2010 Mar 3.

Department of Biochemistry and Molecular Biology, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1111/j.1460-9568.2010.07133.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989642PMC
March 2010

The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.

J Neural Transm (Vienna) 2009 Nov;116(11):1473-82

Department of Neurology, Sourasky Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1007/s00702-009-0303-0DOI Listing
November 2009

Activation of the cholinergic anti-inflammatory system by nicotine attenuates neuroinflammation via suppression of Th1 and Th17 responses.

J Immunol 2009 Nov 21;183(10):6681-8. Epub 2009 Oct 21.

Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.4049/jimmunol.0902212DOI Listing
November 2009

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

Neurogenetics 2009 Oct 13;10(4):355-8. Epub 2009 Mar 13.

Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.

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http://dx.doi.org/10.1007/s10048-009-0186-0DOI Listing
October 2009

Genetic testing in Israel: an overview.

Annu Rev Genomics Hum Genet 2009 ;10:175-92

The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

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http://dx.doi.org/10.1146/annurev.genom.030308.111406DOI Listing
October 2009

Interspecies comparison of prostate cancer gene-expression profiles reveals genes associated with aggressive tumors.

Prostate 2009 Jul;69(10):1034-44

Department of Immunology, Weizmann Institute of Science, Rehovot, Israel.

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http://doi.wiley.com/10.1002/pros.20950
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http://dx.doi.org/10.1002/pros.20950DOI Listing
July 2009

Being 'at-risk' for developing cancer: cognitive representations and psychological outcomes.

J Behav Med 2009 Apr 19;32(2):197-208. Epub 2008 Sep 19.

Tel Aviv University, Israel.

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http://dx.doi.org/10.1007/s10865-008-9178-zDOI Listing
April 2009

Cytogenetic analysis of 101 skull base tumors.

Head Neck 2008 May;30(5):567-81

Department of Otolaryngology-Head and Neck Surgery, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/hed.20741DOI Listing
May 2008

Advances in the genetics of Parkinson's disease.

Acta Pharmacol Sin 2008 Jan;29(1):21-34

The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1111/j.1745-7254.2008.00731.xDOI Listing
January 2008

FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5' CpG island and abnormal expression of the AKT1, NOG, and BMP4 genes.

Genes Chromosomes Cancer 2007 Nov;46(11):1028-38

Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, 64239 Israel.

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http://dx.doi.org/10.1002/gcc.20489DOI Listing
November 2007

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.

JAMA 2007 Sep;298(11):1281-90

Hebrew University-Hadassah Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1001/jama.298.11.1281DOI Listing
September 2007

Expression changes in mouse brains following nicotine-induced seizures: the modulation of transcription factor networks.

Physiol Genomics 2007 Aug 24;30(3):242-52. Epub 2007 Apr 24.

Genetic Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://www.physiology.org/doi/10.1152/physiolgenomics.00288.
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http://dx.doi.org/10.1152/physiolgenomics.00288.2006DOI Listing
August 2007

Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain?

Physiol Genomics 2007 Jan 19;28(2):213-22. Epub 2006 Sep 19.

Genetic Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1152/physiolgenomics.00155.2006DOI Listing
January 2007

An alternative spliced RNASEL variant in peripheral blood leukocytes.

J Interferon Cytokine Res 2006 Nov;26(11):820-6

Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY 10012, USA.

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http://dx.doi.org/10.1089/jir.2006.26.820DOI Listing
November 2006

Array-based comparative genome hybridization in clinical genetics.

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

Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.

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http://dx.doi.org/10.1203/01.pdr.0000233012.00447.68DOI Listing
September 2006

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

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

Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/pros.20425DOI Listing
July 2006

Cytogenetic analysis of sinonasal carcinomas.

Otolaryngol Head Neck Surg 2006 Apr;134(4):654-60

Skull Base Surgery Unit, Department of Otolaryngology-Head and Neck Surgery, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.otohns.2005.10.055DOI Listing
April 2006

Initial experience of videocapsule endoscopy for diagnosing small-bowel tumors in patients with GI polyposis syndromes.

Gastrointest Endosc 2005 Sep;62(3):448-52

Department of Gastroenterology, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Israel.

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http://dx.doi.org/10.1016/s0016-5107(05)01582-8DOI Listing
September 2005

Lower core body temperature and attenuated nicotine-induced hypothermic response in mice lacking the beta4 neuronal nicotinic acetylcholine receptor subunit.

Brain Res Bull 2005 Jul 22;66(1):30-6. Epub 2005 Apr 22.

The Genetics Institute, Tel-Aviv Sourasky Medical Center, 6 Weizmann St., Tel Aviv 64239, Israel.

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http://dx.doi.org/10.1016/j.brainresbull.2005.02.032DOI Listing
July 2005

Increased severity of experimental colitis in alpha 5 nicotinic acetylcholine receptor subunit-deficient mice.

Neuroreport 2005 Jul;16(10):1123-7

The Genetics Institute, Tel-Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1097/00001756-200507130-00018DOI Listing
July 2005