Published in Hum Mol Genet on June 01, 2003
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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
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Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
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PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol (2010) 11.85
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Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet (2004) 7.69
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Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A (2005) 6.98
Targeting BTK with ibrutinib in relapsed or refractory mantle-cell lymphoma. N Engl J Med (2013) 6.70
Results of multivariable logistic regression, propensity matching, propensity adjustment, and propensity-based weighting under conditions of nonuniform effect. Am J Epidemiol (2005) 6.20
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus. Immunity (2008) 5.89
Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci (2007) 5.68
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Kinase activity of mutant LRRK2 mediates neuronal toxicity. Nat Neurosci (2006) 5.32
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci U S A (2004) 4.76
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet (2008) 4.69
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A (2005) 4.22
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet (2009) 4.11
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol (2012) 3.93
Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. J Neurosci (2005) 3.92
A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat Cell Biol (2005) 3.89
PML in a patient treated with fumaric acid. N Engl J Med (2013) 3.87
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
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Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol (2008) 3.75
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet (2005) 3.63
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
Preparing for preventive clinical trials: the Predict-HD study. Arch Neurol (2006) 3.57
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
The measurement of multiple chronic diseases--a systematic review on existing multimorbidity indices. J Gerontol A Biol Sci Med Sci (2010) 3.44
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol (2004) 3.37
Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth. Proc Natl Acad Sci U S A (2002) 3.34
p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's disease. Neuron (2005) 3.13
Life span extension by calorie restriction depends on Rim15 and transcription factors downstream of Ras/PKA, Tor, and Sch9. PLoS Genet (2007) 3.07
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy. Hum Mol Genet (2010) 3.00
BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates. Proc Natl Acad Sci U S A (2006) 3.00
Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc Natl Acad Sci U S A (2005) 3.00
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol (2007) 2.99
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Body mass index and the risk of stroke in men. Arch Intern Med (2002) 2.90
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol (2008) 2.85
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions. ASN Neuro (2009) 2.85
The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. J Biol Chem (2008) 2.77
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet (2010) 2.76
RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways. Proc Natl Acad Sci U S A (2008) 2.76
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 2.75
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet (2004) 2.75
CUBN is a gene locus for albuminuria. J Am Soc Nephrol (2011) 2.70
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron (2002) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP. Proc Natl Acad Sci U S A (2008) 2.64
Early outcome of carotid angioplasty and stenting with and without cerebral protection devices: a systematic review of the literature. Stroke (2003) 2.63
Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet (2011) 2.62
BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. EMBO J (2005) 2.60
Between-hospital variation in treatment and outcomes in extremely preterm infants. N Engl J Med (2015) 2.59
An in vitro model of Parkinson's disease: linking mitochondrial impairment to altered alpha-synuclein metabolism and oxidative damage. J Neurosci (2002) 2.54
Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's disease. Am J Psychiatry (2002) 2.52
The R1441C mutation of LRRK2 disrupts GTP hydrolysis. Biochem Biophys Res Commun (2007) 2.42
Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking. Biochemistry (2009) 2.38
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J (2009) 2.37
Novel needle immersed vitrification: a practical and convenient method with potential advantages in mouse and human ovarian tissue cryopreservation. Hum Reprod (2008) 2.37
Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase. Proc Natl Acad Sci U S A (2008) 2.36
A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. Mol Cell (2010) 2.36
Progression-specific genes identified by expression profiling of matched ductal carcinomas in situ and invasive breast tumors, combining laser capture microdissection and oligonucleotide microarray analysis. Cancer Res (2006) 2.36
Repetitive bilateral arm training and motor cortex activation in chronic stroke: a randomized controlled trial. JAMA (2004) 2.36
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Nat Genet (2011) 2.32
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet (2009) 2.29
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol (2013) 2.24
Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. PLoS One (2009) 2.23
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23
Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell (2013) 2.22
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
A brassinosteroid transcriptional network revealed by genome-wide identification of BESI target genes in Arabidopsis thaliana. Plant J (2011) 2.19