about
Neural expression and chromosomal mapping of Neu differentiation factor to 8p12-p21Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseDeficiency of nicotinic acetylcholine receptor beta 4 subunit causes autonomic cardiac and intestinal dysfunctionMice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birthAltered baroreflex responses in alpha7 deficient miceA genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility lociEfficient Estimation of Nonparametric Genetic Risk Function with Censored Data.Cytogenetic analysis of three variants of clival chordoma.False-positive results using a Gaucher diagnostic kit--RecTL and N370SGenome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.Biochemical and functional properties of distinct nicotinic acetylcholine receptors in the superior cervical ganglion of mice with targeted deletions of nAChR subunit genes.Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features.Nicotinic acetylcholine receptors control acetylcholine and noradrenaline release in the rodent habenulo-interpeduncular complexFamilial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish populationMolecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.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.Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency.New genetic principles.Genetic testing in Israel: an overview.Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's diseaseThe role of neuronal nicotinic acetylcholine receptor subunits in autonomic ganglia: lessons from knockout mice.Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumorsInterest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relativesReorganization of corticostriatal circuits in healthy G2019S LRRK2 carriers.Differential effects of severe vs mild GBA mutations on Parkinson disease.Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease.Genetic markers of Restless Legs Syndrome in Parkinson diseaseNonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 geneAge-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium.Sperm epidermal growth factor receptor (EGFR) mediates α7 acetylcholine receptor (AChR) activation to promote fertilization.Catecholamine outflow from mouse and rat brain slice preparations evoked by nicotinic acetylcholine receptor activation and electrical field stimulationGBA mutations are associated with Rapid Eye Movement Sleep Behavior DisorderLower cognitive performance in healthy G2019S LRRK2 mutation carriers.
P50
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P50
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Avi Orr-Urtreger
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