Search Results - "Pavanni, R."
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Differential effect of caffeine intake in subjects with genetic susceptibility to Parkinson’s Disease
Published in Scientific reports (02-11-2015)“…We examined if caffeine intake has a differential effect in subjects with high and low genetic susceptibility to Parkinson’s disease (PD), a common…”
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Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus
Published in Neurology (10-08-2010)“…A genome-wide association study (GWAS) in the Japanese population identified 2 new Parkinson disease (PD) susceptibility loci on 1q32 (PARK16) (OMIM 613164)…”
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The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
Published in Neuroscience letters (26-08-2005)“…A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G > A transition (G2019S) accounts for about 3–7% of familial Parkinson's disease (PD)…”
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The LRRK2 Gly2385Arg variant is associated with Parkinson's disease : genetic and functional evidence
Published in Human genetics (01-02-2007)“…Evidence of LRRK2 haplotypes associated with Parkinson's disease (PD) risk was recently found in the Chinese population from Singapore, and a common LRRK2…”
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Dose-dependent protective effect of coffee, tea, and smoking in Parkinson's disease: a study in ethnic Chinese
Published in Journal of the neurological sciences (15-12-2003)“…Introduction: Few studies have examined the relationship of coffee and tea in Parkinson's disease (PD). The potential protective effect of coffee intake and…”
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LRRK2 R1628P increases risk of Parkinson’s disease: replication evidence
Published in Human genetics (01-10-2008)“…We showed that the frequency of a LRRK2 variant (c.4883G > C, R1628P) was higher in Parkinson’s disease (PD) compared to controls (8.4 vs. 3.4%, P = 0.046, OR…”
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Complementary therapies in hemifacial spasm and comparison with other movement disorders
Published in International journal of clinical practice (Esher) (01-08-2013)“…We determined the prevalence, range and factors influencing the use of complementary therapy among hemifacial spasm patients and compared the patterns of use…”
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1.231 SEVERITY OF HEMIFACIAL SPASM CORRELATES WITH THE USE OF COMPLEMENTARY THERAPIES
Published in Parkinsonism & related disorders (2012)Get full text
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Analysis of LRRK2 functional domains in nondominant Parkinson disease
Published in Neurology (25-10-2005)“…A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed…”
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10
DRD3 variant and risk of essential tremor
Published in Neurology (06-03-2007)Get full text
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MDR1, the blood–brain barrier transporter, is associated with Parkinson’s disease in ethnic Chinese
Published in Journal of medical genetics (01-05-2004)“…Pathogenic mutations in several genes-including α-synuclein, Parkin, UCH-L1 (ubiquitin-C terminal hydrolase-L1) and DJ-1-have previously been identified in…”
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Alpha-synuclein haplotypes implicated in risk of Parkinson's disease
Published in Neurology (13-01-2004)“…The authors examined four- and six-loci haplotype constructs (from five single nucleotide polymorphisms and three microsatellite regions) of the…”
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Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
Published in Neurology (27-07-2004)“…Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical…”
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Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition : clinical association
Published in Human genetics (01-12-2005)“…We provided data to show that the transcriptional activity of wildtype -258T in the parkin promoter region was significantly higher than the -258G variant in…”
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Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease
Published in Neuroscience letters (31-07-2006)“…Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for…”
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P3.040 Non synonymous GIGYF2 variants in Parkinson's disease
Published in Parkinsonism & related disorders (2009)Get full text
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Prescribing pattern in Parkinson's disease: are cost and efficacy overriding factors?
Published in International journal of clinical practice (Esher) (01-05-2005)“…Information on prescribing pattern of antiparkinsonian medications and factors influencing neurologists' choice of such drugs are important considerations in…”
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Is hypertension associated with hemifacial spasm?
Published in Neurology (28-01-2003)Get full text
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Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease
Published in Neurogenetics (01-12-2005)“…Altered splicing of parkin under cellular stress could lead to changes in gene expression and altered protein activity. The causative role of parkin in…”
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Analysis of PINK1 in Asian patients with familial parkinsonism
Published in Clinical genetics (01-11-2005)Get full text
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