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Lista de obras de Avi Orr-Urtreger

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2009

Advances in the genetics of Parkinson's disease

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 1995

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

artículo científico publicado en 2016

Array-based comparative genome hybridization in clinical genetics

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Autonomic function in mice lacking alpha5 neuronal nicotinic acetylcholine receptor subunit

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2003

Cytogenetic analysis of 101 skull base tumors

artículo científico publicado en 2008

Cytogenetic analysis of sinonasal carcinomas

scientific article published on 01 April 2006

Cytogenetic analysis of three variants of clival chordoma

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 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)

artículo científico publicado en 1993

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

artículo científico

Differential effects of severe vs mild GBA mutations on Parkinson disease

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado en 2006

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

artículo científico publicado en 1999

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2003

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2015

Gait alterations in healthy carriers of the LRRK2 G2019S mutation.

artículo científico publicado en 2011

Genetic markers of Restless Legs Syndrome in Parkinson disease

artículo científico publicado en 2015

Genetic testing in Israel: an overview

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 1998

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Lower cognitive performance in healthy G2019S LRRK2 mutation carriers

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

artículo científico publicado en 2009

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

artículo científico publicado en 2002

Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers

artículo científico publicado en 2013

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

artículo científico publicado en 1993

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

artículo científico publicado en 2014

New genetic principles

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Reorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers

artículo científico publicado en 2014

Rett syndrome: clinical manifestations in males with MECP2 mutations

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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.

artículo científico publicado en 1990

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Two novel mutations identified in familial cases with Donohue syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

[Detection and identification of a biological attack]

artículo científico publicado en 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

artículo científico publicado en 2011

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