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Classification of sporadic Creutzfeldt‐Jakob disease based on molecular and phenotypic analysis of 300 subjects
Phenotypic heterogeneity in sporadic Creutzfeldt‐Jakob disease (sCJD) is well documented, but there is not yet a systematic classification of the disease variants. In a previous study, we showed thatExpand
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Aβ42‐driven cerebral amyloidosis in transgenic mice reveals early and robust pathology
We have generated a novel transgenic mouse model on a C57BL/6J genetic background that coexpresses KM670/671NL mutated amyloid precursor protein and L166P mutated presenilin 1 under the control of aExpand
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Clinical and biomarker changes in dominantly inherited Alzheimer's disease.
BACKGROUND The order and magnitude of pathologic processes in Alzheimer's disease are not well understood, partly because the disease develops over many years. Autosomal dominant Alzheimer's diseaseExpand
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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.
Familial multiple system tauopathy with presenile dementia (MSTD) is a neurodegenerative disease with an abundant filamentous tau protein pathology. It belongs to the group of familial frontotemporalExpand
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Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
One year ago, in this journal, we published a recommended nomenclature for the neuropathologic subtypes of frontotemporal lobar degeneration (FTLD) [7]. A major impetus behind this was to resolve theExpand
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Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and twoExpand
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Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease
We sequenced the prion protein gene and studied the biochemical characteristics and the intracerebral distribution of protease‐resistant prion protein with Western blot and immunohistochemistry in 19Expand
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Cryo-EM structures of tau filaments from Alzheimer's disease
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Abundant Tau Filaments and Nonapoptotic Neurodegeneration in Transgenic Mice Expressing Human P301S Tau Protein
The identification of mutations in the Tau gene in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has made it possible to express human tau protein with pathogenicExpand
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Brain homogenates from human tauopathies induce tau inclusions in mouse brain
Filamentous inclusions made of hyperphosphorylated tau are characteristic of numerous human neurodegenerative diseases, including Alzheimer’s disease, tangle-only dementia, Pick disease, argyrophilicExpand
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