Search Results - "Zabetian, C P"
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A clinic-based study of the LRRK2 gene in parkinson disease yields new mutations
Published in Neurology (13-09-2005)“…Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced…”
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Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology
Published in Psychopharmacology (01-08-2004)“…Norepinephrine (NE) is a key neurotransmitter in the central and peripheral nervous systems. Dopamine beta-hydroxylase (DbetaH) catalyzes the synthesis of NE…”
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A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
Published in Neurology (28-09-2010)“…To perform a comprehensive population genetic study of PARK2. PARK2 mutations are associated with juvenile parkinsonism, Alzheimer disease, cancer, leprosy,…”
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Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers
Published in Neurology (03-01-2012)“…The goal of the current investigation was to examine a cohort of symptomatic and asymptomatic LRRK2 mutation carriers, in order to address whether the reported…”
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Human PON1, a biomarker of risk of disease and exposure
Published in Chemico-biological interactions (06-09-2010)“…Human paraoxonase 1 (PON1) is a high-density lipoprotein (HDL)-associated serum enzyme that exhibits a broad substrate specificity. In addition to protecting…”
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Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease
Published in Neurology (22-08-2006)“…LRRK2 G2019S is the most common known cause of Parkinson disease (PD) in patients of European origin, but little is known about its distribution in other…”
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Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
Published in Parkinsonism & related disorders (01-05-2014)Get full text
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Association of cognitive domains with postural instability/gait disturbance in Parkinson's disease
Published in Parkinsonism & related disorders (01-07-2015)“…Abstract Introduction Research suggests an association between global cognition and postural instability/gait disturbance (PIGD) in Parkinson disease (PD), but…”
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The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity
Published in American journal of human genetics (01-06-2003)“…There is currently a great deal of interest in using linkage disequilibrium (LD) mapping to locate both disease and quantitative-trait loci on a genomewide…”
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Hypothesis: Somatic Mosaicism and Parkinson Disease
Published in Experimental neurobiology (01-06-2015)“…KCI Citation Count: 1…”
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A genetic basis for the variable effect of smoking/nicotine on Parkinson’s disease
Published in The pharmacogenomics journal (01-12-2013)“…Prior studies have established an inverse association between cigarette smoking and the risk of developing Parkinson’s disease (PD), and currently, the…”
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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Published in Neurology (15-04-2008)“…Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have…”
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An attempt to replicate interaction between coffee and CYP1A2 gene in connection to Parkinson's disease
Published in European journal of neurology (01-09-2011)Get full text
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A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Published in American journal of human genetics (01-02-2001)“…Dopamine-β-hydroxylase (DβH) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-DβH…”
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Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease
Published in Experimental neurobiology (01-06-2015)Get full text
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511 PRAZOSIN IMPROVES NIGHTMARES AND SLEEP DISTURBANCE AND DOES NOT WORSEN DAYTIME SYMPTOMS IN POSTTRAUMATIC STRESS DISORDER
Published in Journal of investigative medicine (01-01-2006)“…BackgroundIn an ongoing parallel-group double-blind placebo-controlled trial at the VA Puget Sound Health Care System, the efficacy of the alpha-1 adrenergic…”
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Phosphorylated α-synuclein in Parkinson's disease
Published in Science translational medicine (15-02-2012)“…Phosphorylated α-synuclein (PS-129), a protein implicated in the pathogenesis of Parkinson's disease (PD), was identified by mass spectrometry in human…”
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GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
Published in Neurology (06-11-2012)“…Mutations in the GBA gene occur in 7% of patients with Parkinson disease (PD) and are a well-established susceptibility factor for PD, which is characterized…”
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Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence
Published in American journal of medical genetics (09-10-2000)“…Cytochrome P450CYP2A6 (CYP2A6) is the predominant enzyme responsible for the metabolism of nicotine to cotinine. Two variants have been identified that encode…”
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Postural instability/gait disturbance in Parkinson's disease has distinct subtypes: an exploratory analysis
Published in Journal of neurology, neurosurgery and psychiatry (01-05-2011)“…ObjectiveTo test the hypothesis that postural instability with falling (PIF) and freezing of gait (FOG) are distinct subtypes of the postural instability/gait…”
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