Published in Neurogenetics on October 01, 2002
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A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01
Depleting neuronal PrP in prion infection prevents disease and reverses spongiosis. Science (2003) 4.57
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Human prion protein with valine 129 prevents expression of variant CJD phenotype. Science (2004) 2.82
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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
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Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet (2006) 2.35
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
A systematic review of prion therapeutics in experimental models. Brain (2006) 2.25
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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain (2008) 2.13
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A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J Cell Biol (2005) 2.01
Disease-associated prion protein oligomers inhibit the 26S proteasome. Mol Cell (2007) 2.01
Analysis of 2000 consecutive UK tonsillectomy specimens for disease-related prion protein. Lancet (2004) 1.96
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Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature (2010) 1.70
A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med (2013) 1.69
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A novel protective prion protein variant that colocalizes with kuru exposure. N Engl J Med (2009) 1.53
A retrospective cohort study of factors that affect healing in long-term care residents with chronic wounds. Ostomy Wound Manage (2009) 1.48
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Disease-related prion protein forms aggresomes in neuronal cells leading to caspase activation and apoptosis. J Biol Chem (2005) 1.42
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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
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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
Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations. Brain (2006) 1.31
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Characterization of two distinct prion strains derived from bovine spongiform encephalopathy transmissions to inbred mice. J Gen Virol (2004) 1.23
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis Model Mech (2009) 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
Chronic wasting disease prions are not transmissible to transgenic mice overexpressing human prion protein. J Gen Virol (2010) 1.19
Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome. Learn Mem (2008) 1.18
Genomically humanized mice: technologies and promises. Nat Rev Genet (2011) 1.18
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
SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome (2011) 1.17
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Mapping the progression of progranulin-associated frontotemporal lobar degeneration. Nat Clin Pract Neurol (2008) 1.17
Genetic variability in CLU and its association with Alzheimer's disease. PLoS One (2010) 1.16
Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins. J Gen Virol (2009) 1.16
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity. Brain (2006) 1.15
The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC. J Biol Chem (2004) 1.14
An enzyme-detergent method for effective prion decontamination of surgical steel. J Gen Virol (2005) 1.14
Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse. Cardiovasc Res (2010) 1.13
Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO J (2011) 1.13
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Hum Mol Genet (2011) 1.12
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Elongated oligomers assemble into mammalian PrP amyloid fibrils. J Mol Biol (2006) 1.10
Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome. PLoS One (2013) 1.10
PrP glycoforms are associated in a strain-specific ratio in native PrPSc. J Gen Virol (2005) 1.09