Published in J Alzheimers Dis on January 01, 2009
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One (2012) 3.11
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain (2010) 1.45
Correlating familial Alzheimer's disease gene mutations with clinical phenotype. Biomark Med (2010) 1.21
Cerebral amyloidosis: amyloid subunits, mutants and phenotypes. Cell Mol Life Sci (2009) 0.96
Genetic pathway-based hierarchical clustering analysis of older adults with cognitive complaints and amnestic mild cognitive impairment using clinical and neuroimaging phenotypes. Am J Med Genet B Neuropsychiatr Genet (2010) 0.94
Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice. J Neurosci (2012) 0.92
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction. BMC Neurol (2014) 0.82
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders. Clin Interv Aging (2015) 0.77
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. J Neurol (2011) 0.75
Identification of a second bovine amyloidotic spongiform encephalopathy: molecular similarities with sporadic Creutzfeldt-Jakob disease. Proc Natl Acad Sci U S A (2004) 3.29
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. Science (2009) 2.30
Anti-amyloid β autoantibodies in cerebral amyloid angiopathy-related inflammation: implications for amyloid-modifying therapies. Ann Neurol (2013) 2.29
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
Conversion of the BASE prion strain into the BSE strain: the origin of BSE? PLoS Pathog (2007) 1.97
Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium. Brain Pathol (2008) 1.85
Pre-symptomatic detection of prions by cyclic amplification of protein misfolding. FEBS Lett (2005) 1.77
Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol (2012) 1.75
Prions in the urine of patients with variant Creutzfeldt-Jakob disease. N Engl J Med (2014) 1.74
Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein. Ann Neurol (2010) 1.66
Interlaboratory comparison of assessments of Alzheimer disease-related lesions: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol (2006) 1.56
Interdural haemorrhage of the posterior fossa due to infraclinoidal carotid artery aneurysm rupture. Acta Neurochir (Wien) (2010) 1.53
Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium. Acta Neuropathol (2008) 1.51
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. Ann Neurol (2004) 1.51
A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. Arch Neurol (2003) 1.49
An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease. J Alzheimers Dis (2011) 1.45
Tetracyclines affect prion infectivity. Proc Natl Acad Sci U S A (2002) 1.39
Brain protein preservation largely depends on the postmortem storage temperature: implications for study of proteins in human neurologic diseases and management of brain banks: a BrainNet Europe Study. J Neuropathol Exp Neurol (2007) 1.38
Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: a BrainNet Europe study. Brain Pathol (2007) 1.36
Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA. Acta Neuropathol (2012) 1.29
Assessment of beta-amyloid deposits in human brain: a study of the BrainNet Europe Consortium. Acta Neuropathol (2009) 1.27
Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model. Neuron (2008) 1.26
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
Intraspecies transmission of BASE induces clinical dullness and amyotrophic changes. PLoS Pathog (2008) 1.23
Staging/typing of Lewy body related alpha-synuclein pathology: a study of the BrainNet Europe Consortium. Acta Neuropathol (2009) 1.17
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features. Acta Neuropathol (2010) 1.16
Inter-laboratory comparison of neuropathological assessments of beta-amyloid protein: a study of the BrainNet Europe consortium. Acta Neuropathol (2008) 1.13
Stimulation of the globus pallidus internus for childhood-onset dystonia. Mov Disord (2005) 1.13
Current concepts in Alzheimer's disease: a multidisciplinary review. Am J Alzheimers Dis Other Demen (2009) 1.12
Hereditary prion protein amyloidoses. Clin Lab Med (2003) 1.12
Chronic wasting disease and atypical forms of bovine spongiform encephalopathy and scrapie are not transmissible to mice expressing wild-type levels of human prion protein. J Gen Virol (2012) 1.09
Assessment of alpha-synuclein pathology: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol (2008) 1.08
Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein. J Biol Chem (2003) 1.06
Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study. Neurodegener Dis (2011) 1.05
Amyloid beta plaque-associated proteins C1q and SAP enhance the Abeta1-42 peptide-induced cytokine secretion by adult human microglia in vitro. Acta Neuropathol (2002) 1.01
A new function of microtubule-associated protein tau: involvement in chromosome stability. Cell Cycle (2008) 0.98
Redox metals and oxidative abnormalities in human prion diseases. Acta Neuropathol (2005) 0.98
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci (2010) 0.97
Specific recognition of biologically active amyloid-β oligomers by a new surface plasmon resonance-based immunoassay and an in vivo assay in Caenorhabditis elegans. J Biol Chem (2012) 0.97
Prion deposition in olfactory biopsy of sporadic Creutzfeldt-Jakob disease. Ann Neurol (2004) 0.97
Oxidative damage to nucleic acids in human prion disease. Neurobiol Dis (2002) 0.96
Phase II trial of cisplatin plus temozolomide, in recurrent and progressive malignant glioma patients. J Neurooncol (2004) 0.96
The efficacy of tetracyclines in peripheral and intracerebral prion infection. PLoS One (2008) 0.96
Inter-laboratory assessment of PrPSc typing in creutzfeldt-jakob disease: a Western blot study within the NeuroPrion Consortium. Brain Pathol (2008) 0.95
Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways. J Mol Biol (2008) 0.95
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol (2007) 0.92
The contribution of neuropsychology to diagnostic assessment in epilepsy. Epilepsy Behav (2010) 0.92
Mutant presenilin 1 increases the expression and activity of BACE1. J Biol Chem (2009) 0.91
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov Disord (2008) 0.90
MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain. Brain Pathol (2012) 0.90
Defined α-synuclein prion-like molecular assemblies spreading in cell culture. BMC Neurosci (2014) 0.90
p38 MAP kinase mediates the cell death induced by PrP106-126 in the SH-SY5Y neuroblastoma cells. Neurobiol Dis (2002) 0.89
Defective tumor necrosis factor-alpha-dependent control of astrocyte glutamate release in a transgenic mouse model of Alzheimer disease. J Biol Chem (2005) 0.88
Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study. Brain (2012) 0.88
Fatal Aspergillus brain abscess in immunocompetent patient. Neurol Sci (2009) 0.87
Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody. Neurobiol Dis (2006) 0.87
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. Epilepsia (2014) 0.87
A new face for old antibiotics: tetracyclines in treatment of amyloidoses. J Med Chem (2013) 0.86
A simple method to assess accuracy of deep brain stimulation electrode placement: pre-operative stereotactic CT + postoperative MR image fusion. Stereotact Funct Neurosurg (2004) 0.86
Tetracyclines and prion infectivity. Infect Disord Drug Targets (2009) 0.86
Biexponential and diffusional kurtosis imaging, and generalised diffusion-tensor imaging (GDTI) with rank-4 tensors: a study in a group of healthy subjects. MAGMA (2007) 0.86
APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38. Acta Neuropathol (2012) 0.86
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. Arch Neurol (2010) 0.85
Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene. J Neuropathol Exp Neurol (2004) 0.85
Role of plasminogen in propagation of scrapie. J Virol (2005) 0.85
Gerstmann-Sträussler-Scheinker disease amyloid protein polymerizes according to the "dock-and-lock" model. J Biol Chem (2005) 0.85
Good gene, bad gene: new APP variant may be both. Prog Neurobiol (2012) 0.84