Published in Alzheimer Dis Assoc Disord on February 22, 2012
Genetics of Alzheimer's disease. Neurotherapeutics (2014) 1.02
CLU genetic variants and cognitive decline among elderly and oldest old. PLoS One (2013) 0.84
Association between DPYSL2 gene polymorphisms and alcohol dependence in Caucasian samples. J Neural Transm (Vienna) (2013) 0.76
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
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
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (2007) 8.10
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
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
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Somatic retrotransposition alters the genetic landscape of the human brain. Nature (2011) 4.16
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med (2006) 3.58
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet (2006) 3.54
The evolution and pathology of frontotemporal dementia. Brain (2005) 3.46
The PCR suite. Bioinformatics (2004) 3.33
Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet (2002) 2.78
Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. Eur J Hum Genet (2008) 2.75
Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr Biol (2005) 2.35
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol (2003) 2.23
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain (2003) 2.20
Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet (2011) 2.12
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability. Am J Hum Genet (2010) 2.02
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol (2008) 1.86
Neuropathological substrates of psychiatric symptoms in prospectively studied patients with autopsy-confirmed dementia with lewy bodies. Am J Psychiatry (2004) 1.82
Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet (2004) 1.80
FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain (2011) 1.76
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68
DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor. J Biol Chem (2006) 1.68
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet (2007) 1.55
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. Hum Mol Genet (2003) 1.49
A longitudinal twin study on IQ, executive functioning, and attention problems during childhood and early adolescence. Acta Neurol Belg (2006) 1.45
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol (2006) 1.40
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. Mov Disord (2009) 1.36
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging (2014) 1.32
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord (2006) 1.29
Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol (2010) 1.26
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia. Ann Neurol (2004) 1.22
Association of the gene encoding neurogranin with schizophrenia in males. J Psychiatr Res (2006) 1.16
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Hum Mol Genet (2007) 1.16
Chasing genes in Alzheimer's and Parkinson's disease. Hum Genet (2004) 1.11
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis (2003) 1.10
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Eur J Hum Genet (2007) 1.10
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol (2013) 1.09
Intrapair differences in hippocampal volume in monozygotic twins discordant for the risk for anxiety and depression. Biol Psychiatry (2006) 1.09
The diagnosis and course of frontotemporal dementia. Alzheimer Dis Assoc Disord (2007) 1.08
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol (2014) 1.08
Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men. PLoS One (2008) 1.07
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet (2012) 1.05
Postmortem examination of vascular lesions in cognitive impairment: a survey among neuropathological services. Stroke (2006) 1.05
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol (2011) 1.01
Attention problems and attention-deficit/hyperactivity disorder in discordant and concordant monozygotic twins: evidence of environmental mediators. J Am Acad Child Adolesc Psychiatry (2007) 1.01
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. Neurobiol Aging (2009) 1.01
Systematic review of primary intracranial glioblastoma multiforme with symptomatic spinal metastases, with two illustrative patients. J Clin Neurosci (2012) 1.01
Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov Disord (2003) 0.98
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning. Eur J Hum Genet (2008) 0.98
Glucocorticoid receptor gene polymorphisms and childhood adversity are associated with depression: New evidence for a gene-environment interaction. Am J Med Genet B Neuropsychiatr Genet (2009) 0.97
Alzheimer's disease with and without cerebral infarcts. J Neurol Sci (2004) 0.97
Enteric alpha-synuclein expression is increased in Parkinson's disease but not Alzheimer's disease. Mov Disord (2013) 0.97
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations. Acta Neuropathol (2012) 0.97
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet (2009) 0.96
Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways. PLoS One (2009) 0.96
Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers. Eur J Hum Genet (2012) 0.94
An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol (2003) 0.94
Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord (2005) 0.94
The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J Neuropathol Exp Neurol (2007) 0.94
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands. Diabetes (2002) 0.94
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease. J Mol Med (Berl) (2004) 0.94
Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Arch Neurol (2003) 0.94
Primary progressive aphasia and Pick complex. J Neurol Sci (2003) 0.93
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet (2012) 0.93
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet (2010) 0.92
Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol (2015) 0.92
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann Neurol (2002) 0.92
From single genes to gene networks: high-throughput-high-content screening for neurological disease. Neuron (2010) 0.92
Primary progressive aphasia: a review of the neurobiology of a common presentation of Pick complex. Am J Alzheimers Dis Other Demen (2002) 0.92
Rates of cognitive decline in Alzheimer's disease and dementia with Lewy bodies. Dement Geriatr Cogn Disord (2003) 0.92
DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease. Brain (2013) 0.91
Regional differences in gene expression and promoter usage in aged human brains. Neurobiol Aging (2013) 0.90
Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease. Mov Disord (2011) 0.90
Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study. Am J Med Genet A (2010) 0.90
Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population. PLoS One (2009) 0.90
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. Ann Neurol (2002) 0.90
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry (2014) 0.90
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis (2010) 0.89
Genetic comorbidities in Parkinson's disease. Hum Mol Genet (2013) 0.89
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet (2006) 0.89
Development of atherosclerosis in the diabetic BALB/c mice. Prevention with Vitamin E administration. Atherosclerosis (2005) 0.89