Published in BMC Med Genet on September 15, 2009
The proinflammatory role of HECTD2 in innate immunity and experimental lung injury. Sci Transl Med (2015) 0.96
Identification of a gene regulatory network associated with prion replication. EMBO J (2014) 0.83
Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. Int J Alzheimers Dis (2012) 0.81
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. Front Cell Neurosci (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Global prevalence of dementia: a Delphi consensus study. Lancet (2005) 23.30
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature (1998) 21.49
Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics (2003) 17.92
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature (1991) 16.77
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A (1993) 15.04
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res (1990) 14.82
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science (1995) 8.31
Alzheimer's disease and Down's syndrome: sharing of a unique cerebrovascular amyloid fibril protein. Biochem Biophys Res Commun (1984) 8.14
Microtubule-associated protein tau. A component of Alzheimer paired helical filaments. J Biol Chem (1986) 6.91
Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry (2006) 6.68
Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci (2001) 6.61
Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature (1991) 5.04
The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg. Neuron (2003) 4.49
Prion protein biology. Cell (1998) 4.20
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (2003) 3.59
Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet (1991) 3.22
Evidence for genetic linkage of Alzheimer's disease to chromosome 10q. Science (2000) 3.16
Susceptibility locus for Alzheimer's disease on chromosome 10. Science (2000) 2.49
Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science (2000) 2.35
The number of trait loci in late-onset Alzheimer disease. Am J Hum Genet (2000) 2.24
Neurons regulate extracellular levels of amyloid beta-protein via proteolysis by insulin-degrading enzyme. J Neurosci (2000) 2.22
Prion disease genetics. Eur J Hum Genet (2006) 2.02
Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci U S A (2001) 1.96
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol (2009) 1.94
Quantitative trait loci affecting prion incubation time in mice. Genomics (2000) 1.73
Genetic and environmental factors modify bovine spongiform encephalopathy incubation period in mice. Proc Natl Acad Sci U S A (2001) 1.69
Genome-wide association studies in Alzheimer disease. Arch Neurol (2008) 1.38
Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease. Hum Mutat (2004) 1.25
HECTD2 is associated with susceptibility to mouse and human prion disease. PLoS Genet (2009) 1.18
Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. Hum Mol Genet (2007) 1.16
The ubiquitin-proteasome pathway in health and disease of the nervous system. Trends Neurosci (2007) 1.09
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Hum Genet (2001) 1.08
Confirmation of association between D10S583 and Alzheimer's disease in a case--control sample. Neurosci Lett (2002) 1.01
Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme. Am J Med Genet B Neuropsychiatr Genet (2005) 0.92
On prions, proteasomes, and mad cows. N Engl J Med (2007) 0.86
Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria. Lancet Neurol (2007) 18.62
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Revising the definition of Alzheimer's disease: a new lexicon. Lancet Neurol (2010) 8.74
Kuru in the 21st century--an acquired human prion disease with very long incubation periods. Lancet (2006) 5.42
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
Depleting neuronal PrP in prion infection prevents disease and reverses spongiosis. Science (2003) 4.57
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (2003) 3.59
Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report. Lancet (2006) 3.12
BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein. EMBO J (2002) 2.98
Human prion protein with valine 129 prevents expression of variant CJD phenotype. Science (2004) 2.82
Prion propagation and toxicity in vivo occur in two distinct mechanistic phases. Nature (2011) 2.74
Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey. BMJ (2013) 2.74
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65
Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay. Lancet (2011) 2.60
Targeting cellular prion protein reverses early cognitive deficits and neurophysiological dysfunction in prion-infected mice. Neuron (2007) 2.58
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Autoantibodies in sporadic Creutzfeldt-Jakob disease. JAMA Neurol (2013) 2.42
Molecular classification of sporadic Creutzfeldt-Jakob disease. Brain (2003) 2.42
Safety and efficacy of quinacrine in human prion disease (PRION-1 study): a patient-preference trial. Lancet Neurol (2009) 2.41
Monoclonal antibodies inhibit prion replication and delay the development of prion disease. Nature (2003) 2.31
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Microglia, amyloid, and cognition in Alzheimer's disease: An [11C](R)PK11195-PET and [11C]PIB-PET study. Neurobiol Dis (2008) 2.27
A systematic review of prion therapeutics in experimental models. Brain (2006) 2.25
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain (2008) 2.13
Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain (2011) 2.13
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet (2013) 2.09
Disease-associated prion protein oligomers inhibit the 26S proteasome. Mol Cell (2007) 2.01
Designing drug trials for Alzheimer's disease: what we have learned from the release of the phase III antibody trials: a report from the EU/US/CTAD Task Force. Alzheimers Dement (2013) 1.98
Analysis of 2000 consecutive UK tonsillectomy specimens for disease-related prion protein. Lancet (2004) 1.96
Interaction between prion protein and toxic amyloid β assemblies can be therapeutically targeted at multiple sites. Nat Commun (2011) 1.96
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol (2009) 1.94
Amyloid beta-protein dimers rapidly form stable synaptotoxic protofibrils. J Neurosci (2010) 1.92
Variant CJD in an individual heterozygous for PRNP codon 129. Lancet (2009) 1.84
Detection and characterization of proteinase K-sensitive disease-related prion protein with thermolysin. Biochem J (2008) 1.77
Progressive logopenic/phonological aphasia: erosion of the language network. Neuroimage (2009) 1.76
Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease. Proc Natl Acad Sci U S A (2008) 1.71
A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med (2013) 1.69
Correlations between apolipoprotein E epsilon4 gene dose and whole brain atrophy rates. Am J Psychiatry (2007) 1.68
Structural magnetic resonance imaging in the practical assessment of dementia: beyond exclusion. Lancet Neurol (2002) 1.64
Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. Neuroimage (2010) 1.62
A novel protective prion protein variant that colocalizes with kuru exposure. N Engl J Med (2009) 1.53
Update on human prion disease. Biochim Biophys Acta (2007) 1.46
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. Brain (2011) 1.45
Molecular and clinical classification of human prion disease. Br Med Bull (2003) 1.45
Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis. J Biol Chem (2005) 1.42
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol (2013) 1.41
Atypical scrapie prions from sheep and lack of disease in transgenic mice overexpressing human prion protein. Emerg Infect Dis (2013) 1.38
Kuru prions and sporadic Creutzfeldt-Jakob disease prions have equivalent transmission properties in transgenic and wild-type mice. Proc Natl Acad Sci U S A (2008) 1.37
Regional heterogeneity of cellular prion protein isoforms in the mouse brain. Brain (2003) 1.37
Subclinical prion infection. Trends Microbiol (2003) 1.36
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet (2010) 1.35
Measurements of the amygdala and hippocampus in pathologically confirmed Alzheimer disease and frontotemporal lobar degeneration. Arch Neurol (2006) 1.35
The role of CHMP2B in frontotemporal dementia. Biochem Soc Trans (2009) 1.34
Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. Brain (2006) 1.34
Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics (2002) 1.31
Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations. Brain (2006) 1.31
Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol Aging (2011) 1.27
Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis. PLoS One (2010) 1.25
Subclinical prion infection in humans and animals. Br Med Bull (2003) 1.25
Characterization of two distinct prion strains derived from bovine spongiform encephalopathy transmissions to inbred mice. J Gen Virol (2004) 1.23
Visual assessment of posterior atrophy development of a MRI rating scale. Eur Radiol (2011) 1.22
Dissociation of pathological and molecular phenotype of variant Creutzfeldt-Jakob disease in transgenic human prion protein 129 heterozygous mice. Proc Natl Acad Sci U S A (2006) 1.22
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Arch Neurol (2008) 1.20
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet (2007) 1.20
Voxel-based morphometry detects patterns of atrophy that help differentiate progressive supranuclear palsy and Parkinson's disease. Neuroimage (2004) 1.19
Chronic wasting disease prions are not transmissible to transgenic mice overexpressing human prion protein. J Gen Virol (2010) 1.19
HECTD2 is associated with susceptibility to mouse and human prion disease. PLoS Genet (2009) 1.18
Rational targeting for prion therapeutics. Nat Rev Neurosci (2005) 1.18
Mapping the progression of progranulin-associated frontotemporal lobar degeneration. Nat Clin Pract Neurol (2008) 1.17
Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins. J Gen Virol (2009) 1.16
Genetic variability in CLU and its association with Alzheimer's disease. PLoS One (2010) 1.16