Published in BMC Med on November 05, 2008
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions. ASN Neuro (2009) 2.85
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat (2010) 2.29
Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology (2011) 1.90
The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord (2013) 1.63
Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology (2011) 1.57
The genetics and neuropathology of Parkinson's disease. Acta Neuropathol (2012) 1.56
Membrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylation. Biochemistry (2010) 1.47
Genomewide association study for onset age in Parkinson disease. BMC Med Genet (2009) 1.24
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Mov Disord (2010) 1.10
Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett (2011) 1.07
The role of innate and adaptive immunity in Parkinson's disease. J Parkinsons Dis (2013) 1.03
Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications. Neurotherapeutics (2014) 0.94
The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. J Neural Transm (Vienna) (2009) 0.93
LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary. BMC Med (2008) 0.91
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. Appl Clin Genet (2011) 0.90
LRRK2, a puzzling protein: insights into Parkinson's disease pathogenesis. Exp Neurol (2014) 0.88
Recent advances in Parkinson’s disease genetics. J Neurol (2014) 0.84
Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype-respiration relationships. Exp Neurol (2009) 0.83
Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord (2011) 0.82
Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression. Hum Mol Genet (2015) 0.82
Impaired sense of smell in a Drosophila Parkinson's model. PLoS One (2013) 0.81
Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data. Biometrika (2015) 0.81
Genetics of Parkinson's disease - a clinical perspective. J Mov Disord (2012) 0.78
Neurodegenerative disease. Genetic discrimination in Huntington disease. Nat Rev Neurol (2009) 0.77
Novel recruitment strategy to enrich for LRRK2 mutation carriers. Mol Genet Genomic Med (2015) 0.77
LRRK2 inhibitors and their potential in the treatment of Parkinson's disease: current perspectives. Clin Pharmacol (2016) 0.76
Penetrance of LRRK2 mutations in familial Parkinson disease. Nat Clin Pract Neurol (2009) 0.75
A vision of the future for BMC Medicine: serving science, medicine and authors. BMC Med (2009) 0.75
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med (2006) 3.90
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet (2005) 3.29
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol (2002) 3.00
Incidence and distribution of parkinsonism in Olmsted County, Minnesota, 1976-1990. Neurology (1999) 2.62
Epidemiology of neurodegeneration. Annu Rev Neurosci (2003) 2.25
Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology (2006) 2.25
Accuracy of family history data on Parkinson's disease. Neurology (2003) 2.15
Pathogenic mutations in Parkinson disease. Hum Mutat (2007) 1.87
The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect? Neurology (2007) 1.70
Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. Neurology (2007) 1.61
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol (2005) 1.54
Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. Trends Neurosci (2005) 1.32
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal. Mov Disord (2007) 1.25
Familial aggregation of Parkinson's disease: The Mayo Clinic family study. Ann Neurol (2004) 1.21
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
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
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis. Nat Cell Biol (2007) 8.29
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Clinical diagnostic criteria for dementia associated with Parkinson's disease. Mov Disord (2007) 6.92
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol (2008) 6.76
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell (2011) 6.56
Direct generation of functional dopaminergic neurons from mouse and human fibroblasts. Nature (2011) 6.21
Valvular heart disease and the use of dopamine agonists for Parkinson's disease. N Engl J Med (2007) 5.95
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Antioxidant activity and phenolic compounds of 112 traditional Chinese medicinal plants associated with anticancer. Life Sci (2004) 5.41
The cortical signature of Alzheimer's disease: regionally specific cortical thinning relates to symptom severity in very mild to mild AD dementia and is detectable in asymptomatic amyloid-positive individuals. Cereb Cortex (2008) 5.36
Genomewide association studies of stroke. N Engl J Med (2009) 5.29
Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines. Mov Disord (2012) 5.12
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet (2008) 5.04
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet (2007) 5.02
Phenomenology and classification of dystonia: a consensus update. Mov Disord (2013) 4.98
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Prevalence of mitochondrial DNA disease in adults. Ann Neurol (2008) 4.72
Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline. Arch Neurol (2002) 4.60
Hold your horses: impulsivity, deep brain stimulation, and medication in parkinsonism. Science (2007) 4.57
Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord (2003) 4.56
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet (2009) 4.56
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Retracted Genetic signatures of exceptional longevity in humans. Science (2010) 4.33
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet (2010) 4.26
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. N Engl J Med (2012) 4.26
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Defining mild cognitive impairment in Parkinson's disease. Mov Disord (2007) 3.92
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med (2006) 3.90
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
Rotenone, paraquat, and Parkinson's disease. Environ Health Perspect (2011) 3.87
Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84
Molecular imaging with Pittsburgh Compound B confirmed at autopsy: a case report. Arch Neurol (2007) 3.83
A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet (2009) 3.78
Initiation and synergistic fibrillization of tau and alpha-synuclein. Science (2003) 3.76
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature (2010) 3.73
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation (2011) 3.68
Akt/protein kinase B signaling inhibitor-2, a selective small molecule inhibitor of Akt signaling with antitumor activity in cancer cells overexpressing Akt. Cancer Res (2004) 3.62
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res (2010) 3.58
Preparing for preventive clinical trials: the Predict-HD study. Arch Neurol (2006) 3.57
Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet (2008) 3.56
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task force. Mov Disord (2007) 3.48
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain (2011) 3.48
Levodopa, methylmalonic acid, and neuropathy in idiopathic Parkinson disease. Ann Neurol (2010) 3.47
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. Ann Neurol (2003) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Genetic signatures of exceptional longevity in humans. PLoS One (2012) 3.20
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
A marker for the end of adolescence. Curr Biol (2004) 3.12
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet (2005) 3.09
Criteria for the diagnosis of corticobasal degeneration. Neurology (2013) 3.07
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03
Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A (2007) 3.03
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02