Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Avi Orr-Urtreger

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

scientific article published on 16 December 2016

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

scientific article published on 10 May 2016

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

scientific article published on 11 July 2016

A comparison between maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A levels in first-trimester twin and singleton pregnancies

scientific article published in March 2004

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

scientific article

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

scientific article

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

scientific journal article

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

scientific article published on 28 May 2015

A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews

scientific article published on 23 July 2002

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

article

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

scientific article published on 21 October 2009

Advances in the genetics of Parkinson's disease

scientific article published on January 2008

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

scientific article published on 10 June 2015

Altered baroreflex responses in alpha7 deficient mice

scientific journal article

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

article

An alternative spliced RNASEL variant in peripheral blood leukocytes

scientific article published on 01 November 2006

Analysis of the Hoxd-3 gene: structure and localization of its sense and natural antisense transcripts.

scientific article published on April 1995

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

scientific article published on 19 July 2016

Array-based comparative genome hybridization in clinical genetics

scientific article published on 20 July 2006

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

scientific article published on 13 March 2009

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

scientific article published in January 2012

Autonomic function in mice lacking alpha5 neuronal nicotinic acetylcholine receptor subunit

scientific article

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

scientific article published on 19 September 2008

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

scientific article

C9orf72-G4C2 Intermediate Repeats and Parkinson’s Disease; A Data-Driven Hypothesis

scientific article published on 05 August 2021

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

scientific article published on 20 March 2014

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

scientific article

Catecholamine outflow from mouse and rat brain slice preparations evoked by nicotinic acetylcholine receptor activation and electrical field stimulation

scientific article

Cellular prion protein co-localizes with nAChR beta4 subunit in brain and gastrointestinal tract.

scientific article

Central role of alpha7 nicotinic receptor in differentiation of the stratified squamous epithelium

scientific article

Central role of fibroblast alpha3 nicotinic acetylcholine receptor in mediating cutaneous effects of nicotine.

scientific article

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

scientific article published on 30 May 2018

Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism

scientific article published in December 2012

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect

scientific article published in May 2002

Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor

scientific article published on 01 March 1995

Combined cytogenetic and array-based comparative genomic hybridization analyses of Wilms tumors: amplification and overexpression of the multidrug resistance associated protein 1 gene (MRP1) in a metachronous tumor

scientific article

Cytogenetic analysis of 101 skull base tumors

scientific article published on 01 May 2008

Cytogenetic analysis of sinonasal carcinomas

scientific article published on 01 April 2006

Cytogenetic analysis of three variants of clival chordoma

scientific article published in October 2004

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

scientific article

Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome

scientific article published on 01 September 2002

Deficiency of nicotinic acetylcholine receptor beta 4 subunit causes autonomic cardiac and intestinal dysfunction

scientific journal article

Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)

scientific article

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

scientific article published on 19 September 2006

Differential effects of severe vs mild GBA mutations on Parkinson disease

scientific article

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

scientific article published on 01 July 2019

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

scientific article published on 14 September 2015

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

scientific article published in February 2009

Effect of fetal gender on first trimester markers and on Down syndrome screening

scientific article published on 01 December 2001

Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data

scientific article

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

scientific article

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

scientific article published on 29 May 2014

Evaluating the suitability of nicotinic acetylcholine receptor antibodies for standard immunodetection procedures.

scientific article

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

scientific article published on 24 April 2007

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

scientific article

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

scientific article

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

scientific article

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features.

scientific article

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

scholarly article

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

scientific article published on 01 October 1999

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

scientific article

First trimester PAPP-A in the detection of non-Down syndrome aneuploidy.

scientific article published in July 2001

First trimester maternal serum free human chorionic gonadotropin as a predictor of adverse pregnancy outcome

scientific article published on 01 November 2002

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required

scientific article

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

scientific article published on September 2007

Functional role of alpha7 nicotinic receptor in physiological control of cutaneous homeostasis

scientific article published in March 2003

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

scientific article

Gait alterations in healthy carriers of the LRRK2 G2019S mutation

scientific article

Genetic markers of Restless Legs Syndrome in Parkinson disease

scientific article published on 17 March 2015

Genetic testing in Israel: an overview

scientific article

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

scientific article

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

scientific article published on 23 April 2008

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

scientific article published on 31 May 2012

Hidden function of neuronal nicotinic acetylcholine receptor beta2 subunits in ganglionic transmission: comparison to alpha5 and beta4 subunits

scientific article published on 20 January 2005

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

scientific article

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

scientific article

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

scientific article published on 27 December 2017

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin

scientific article published on 01 January 1998

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

scientific article

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

scientific article published on 12 August 2011

Increased sensitivity to nicotine-induced seizures in mice heterozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor

scientific article published in February 2002

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

scientific article published in July 2005

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

scientific article

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

scientific article published on 4 November 2015

Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives

scientific article

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

scientific article published in July 2009

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

scientific article

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

scientific article published on 5 May 2015

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

scientific article published on 01 February 2011

Lower cognitive performance in healthy G2019S LRRK2 mutation carriers

scientific article

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

scientific article published on 22 April 2005

MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

scientific article published on 01 October 2002

Maternal serum HCG is higher in the presence of a female fetus as early as week 3 post-fertilization

scientific article published in February 2002

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

scientific article published on 13 February 2014

Mice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birth

scientific journal article

Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures

scientific article published on 13 April 2004

Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants

scientific article

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

scientific article

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

scientific article

Multiple genes in human 20q13 chromosomal region are involved in an advanced prostate cancer xenograft.

scientific article published in December 2002

Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy

scientific article published in March 2004

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

scientific article

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

scientific article published on 21 February 2019

Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers

scientific article

Neural expression and chromosomal mapping of Neu differentiation factor to 8p12-p21

scientific article

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

scientific article

New genetic principles

scientific article

Nicotinic acetylcholine receptor alpha5 subunits modulate oxotremorine-induced salivation and tremor

scientific article published in July 2004

Nicotinic acetylcholine receptor-subunit mRNAs in the mouse superior cervical ganglion are regulated by development but not by deletion of distinct subunit genes.

scientific article published in April 2008

Nicotinic acetylcholine receptors control acetylcholine and noradrenaline release in the rodent habenulo-interpeduncular complex

scientific article

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

scientific article published on 21 March 2015

Normal apoptosis levels in mice expressing one alpha7 nicotinic receptor null and one L250T mutant allele.

scientific article published in June 2001

Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors

scientific article

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

scientific article published on 6 January 2016

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

scientific article published on 15 October 2013

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

article

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

scientific article

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

scientific article published on 16 February 2011

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

scientific article published on 01 January 1999

Progression in the LRRK2-Asssociated Parkinson Disease Population

scientific article published on 8 January 2018

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

scientific article published on 01 March 2006

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

scientific article published on 08 May 2019

Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers

scientific article

Rett syndrome: clinical manifestations in males with MECP2 mutations

scientific article published in January 2002

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

scientific article

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

scientific article

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

scientific article published on 01 January 2003

Selective deletion of the alpha5 subunit differentially affects somatic-dendritic versus axonally targeted nicotinic ACh receptors in mouse.

scientific article published on 20 December 2004

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

scientific article published on 06 December 2018

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

scientific article published on 22 April 2013

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

scientific article

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

scientific article published on 20 March 2012

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

article

Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes

scientific article published in April 2004

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

scientific article published on 2 August 2015

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

scientific article

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

scientific article

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

scientific article published on 06 September 2011

The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

scientific article published on 01 January 2003

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

scientific article

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

scientific article

The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer

scientific article published on 01 January 2007

The murine flg gene encodes a receptor for fibroblast growth factor.

scientific article published in May 1990

The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo

scientific article published in May 2003

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

scientific article

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families

scientific article published on 01 January 2000

The role of neuronal nicotinic acetylcholine receptor subunits in autonomic ganglia: lessons from knockout mice

scientific article

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

article

Tnfα, Cox2 and AdipoQ adipokine gene expression levels are modulated in murine adipose tissues by both nicotine and nACh receptors containing the β2 subunit

scientific article published on 18 August 2012

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

scientific article

Two novel mutations identified in familial cases with Donohue syndrome

scientific article

Two novel translocations, t(2;4)(q35;q31) and t(X;12)(q22;q24), as the only karyotypic abnormalities in a malignant peripheral nerve sheath tumor of the skull base

scientific article published on 01 September 2003

Undetected sex chromosome aneuploidy by chromosomal microarray

scientific article published on 4 October 2012

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

scientific article published on 15 September 2017

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

scientific article published on 07 February 2014

[Detection and identification of a biological attack]

scientific article published on 01 May 2002

[Neurosurgical aspects in achondroplasia: evaluation and treatment]

scientific article published on 01 November 2001

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

scientific article published on May 2011

Paulina is supported by:

About Paulina

Help