Published in Mov Disord on July 01, 2004
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
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
Genomewide association studies and human disease. N Engl J Med (2009) 9.05
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2006) 7.32
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry (2007) 7.23
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron (2007) 6.88
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Parkinson's disease. Lancet (2009) 6.60
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A (2003) 6.46
Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis (2006) 5.96
Toxic proteins in neurodegenerative disease. Science (2002) 5.82
A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81
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
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
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
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet (2008) 4.69
Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nat Rev Drug Discov (2010) 4.55
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2007) 3.93
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol (2013) 3.70
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
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Genetics of Parkinson's disease and parkinsonism. Ann Neurol (2006) 3.60
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet (2009) 3.38
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol (2004) 3.37
Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet (2009) 3.35
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
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun (2011) 3.23
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
CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Hum Mol Genet (2004) 3.12
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. Proc Natl Acad Sci U S A (2005) 3.02
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
Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiol Aging (2003) 2.96
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J Neurochem (2011) 2.82
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet (2010) 2.76
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 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
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65
Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J (2003) 2.64
Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol (2009) 2.60
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet (2009) 2.58
Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med (2012) 2.58
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet (2010) 2.51
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord (2010) 2.47
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis (2006) 2.42
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Antiamyloid therapy for Alzheimer's disease--are we on the right road? N Engl J Med (2014) 2.29
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain (2012) 2.28
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23