Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 21782285)

Published in Neurobiol Aging on July 22, 2011

Authors

Manu Sharma1, Demetrius M Maraganore, John P A Ioannidis, Olaf Riess, Jan O Aasly, Grazia Annesi, Nadine Abahuni, Anna Rita Bentivoglio, Alexis Brice, Christine Van Broeckhoven, Marie-Christine Chartier-Harlin, Alain Destée, Ana Djarmati, Alexis Elbaz, Matthew Farrer, Carlo Ferrarese, J Mark Gibson, Suzana Gispert, Nobutaka Hattori, Barbara Jasinska-Myga, Christine Klein, Suzanne Lesage, Timothy Lynch, Peter Lichtner, Jean-Charles Lambert, Anthony E Lang, George D Mellick, Francesa De Nigris, Grzegorz Opala, Aldo Quattrone, Chiara Riva, Ekaterina Rogaeva, Owen A Ross, Wataru Satake, Peter A Silburn, Jessie Theuns, Tatsushi Toda, Hiroyuki Tomiyama, Ryan J Uitti, Karin Wirdefeldt, Zbigniew Wszolek, Thomas Gasser, Rejko Krüger, Genetic Epidemiology of Parkinson's Disease Consortium

Author Affiliations

1: Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tuebingen, Germany. manu.sharma@uni-tuebingen.de

Articles by these authors

Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet (2012) 41.47

Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94

Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet (2012) 26.95

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration. BMJ (2009) 22.18

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLoS Med (2009) 21.74

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35

Power failure: why small sample size undermines the reliability of neuroscience. Nat Rev Neurosci (2013) 13.37

Systematic review of the empirical evidence of study publication bias and outcome reporting bias. PLoS One (2008) 13.32

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. Ann Intern Med (2009) 12.16

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. J Clin Epidemiol (2009) 11.80

TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35

Common values in assessing health outcomes from disease and injury: disability weights measurement study for the Global Burden of Disease Study 2010. Lancet (2012) 11.32

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): scale presentation and clinimetric testing results. Mov Disord (2008) 9.52

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42

The case of the misleading funnel plot. BMJ (2006) 8.26

Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet (2004) 7.69

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol (2010) 7.62

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45

novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42

Vitamin D and multiple health outcomes: umbrella review of systematic reviews and meta-analyses of observational studies and randomised trials. BMJ (2014) 7.21

Recommendations for examining and interpreting funnel plot asymmetry in meta-analyses of randomised controlled trials. BMJ (2011) 6.80

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet (2008) 6.71

Postoperative radiotherapy after radical prostatectomy for high-risk prostate cancer: long-term results of a randomised controlled trial (EORTC trial 22911). Lancet (2012) 6.61

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet (2005) 6.36

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science (2013) 6.34

Sensitivity of between-study heterogeneity in meta-analysis: proposed metrics and empirical evaluation. Int J Epidemiol (2008) 5.88

Research grants: Conform and be funded. Nature (2012) 5.83

Correlation of quality measures with estimates of treatment effect in meta-analyses of randomized controlled trials. JAMA (2002) 5.81

Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci (2007) 5.68

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48

Assessment of claims of improved prediction beyond the Framingham risk score. JAMA (2009) 5.36

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32

Timing of onset of cognitive decline: results from Whitehall II prospective cohort study. BMJ (2012) 5.26

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18

Why current publication practices may distort science. PLoS Med (2008) 5.09

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol (2011) 5.01

Phenomenology and classification of dystonia: a consensus update. Mov Disord (2013) 4.98

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80

Impulse control disorders in Parkinson disease: a cross-sectional study of 3090 patients. Arch Neurol (2010) 4.77

From psychogenic movement disorder to functional movement disorder: it's time to change the name. Mov Disord (2013) 4.77

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71

Evaluation of networks of randomized trials. Stat Methods Med Res (2007) 4.70

Predictive ability of DNA microarrays for cancer outcomes and correlates: an empirical assessment. Lancet (2003) 4.58

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord (2003) 4.56

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet (2007) 4.54

Number of published systematic reviews and global burden of disease: database analysis. BMJ (2003) 4.53

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet (2011) 4.52

The PRISMA extension statement for reporting of systematic reviews incorporating network meta-analyses of health care interventions: checklist and explanations. Ann Intern Med (2015) 4.49

Neoadjuvant versus adjuvant systemic treatment in breast cancer: a meta-analysis. J Natl Cancer Inst (2005) 4.48

Heterogeneity testing in meta-analysis of genome searches. Genet Epidemiol (2005) 4.45

Public availability of published research data in high-impact journals. PLoS One (2011) 4.41

Excessive daytime sleepiness and sudden-onset sleep in Parkinson disease: a survey by the Canadian Movement Disorders Group. JAMA (2002) 4.38

Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity. Nat Genet (2010) 4.35

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27