Published in Am J Med Genet B Neuropsychiatr Genet on December 05, 2006
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol (2007) 4.30
FTD and ALS: a tale of two diseases. Curr Alzheimer Res (2011) 1.12
Frontotemporal dementia caused by CHMP2B mutations. Curr Alzheimer Res (2011) 0.99
Comprehensive mRNA expression profiling distinguishes tauopathies and identifies shared molecular pathways. PLoS One (2009) 0.96
Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration. Int J Clin Exp Med (2010) 0.91
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. J Neurol (2010) 0.87
Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons. PLoS One (2012) 0.79
Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Dis Assoc Disord (2014) 0.78
α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease. Hum Mol Genet (2016) 0.77
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90
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
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
Alcohol consumption and risk of dementia: the Rotterdam Study. Lancet (2002) 5.32
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
Dietary intake of antioxidants and risk of Alzheimer disease. JAMA (2002) 4.01
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
Inflammatory proteins in plasma and the risk of dementia: the rotterdam study. Arch Neurol (2004) 3.38
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
Cerebral hypoperfusion and clinical onset of dementia: the Rotterdam Study. Ann Neurol (2005) 2.80
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
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry (2010) 2.44
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
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
Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet (2004) 1.80
Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet (2012) 1.79
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
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations. Brain (2007) 1.55
Diagnostic accuracy of consensus diagnostic criteria for frontotemporal dementia in a memory clinic population. Dement Geriatr Cogn Disord (2008) 1.51
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
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. Acta Neuropathol (2009) 1.39
Impact of behavioural problems on spousal caregivers: a comparison between Alzheimer's disease and frontotemporal dementia. Dement Geriatr Cogn Disord (2006) 1.36
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
A scalable pipeline for highly effective genetic modification of a malaria parasite. Nat Methods (2011) 1.31
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord (2006) 1.29
Survival profiles of patients with frontotemporal dementia and motor neuron disease. Arch Neurol (2009) 1.26
Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration. J Neurol (2009) 1.22
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia. Ann Neurol (2004) 1.22
The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases. Mov Disord (2014) 1.20
The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence. Hum Mol Genet (2007) 1.16
Association of the gene encoding neurogranin with schizophrenia in males. J Psychiatr Res (2006) 1.16
Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism. Neurosci Lett (2003) 1.13
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
Genome-wide prediction of functional gene-gene interactions inferred from patterns of genetic differentiation in mice and men. PLoS One (2008) 1.07
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet (2015) 1.03
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol (2011) 1.01
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet (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
Endogenous estradiol and risk of dementia in women and men: the Rotterdam Study. Ann Neurol (2003) 1.00
The apolipoprotein E gene and its age-specific effects on cognitive function. Neurobiol Aging (2008) 0.99
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
Survival in progressive supranuclear palsy and frontotemporal dementia. J Neurol Neurosurg Psychiatry (2010) 0.98
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet (2011) 0.97
Efficacy of a Plasmodium vivax malaria vaccine using ChAd63 and modified vaccinia Ankara expressing thrombospondin-related anonymous protein as assessed with transgenic Plasmodium berghei parasites. Infect Immun (2013) 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