Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.
about
Genetic susceptibility, evolution and the kuru epidemicKuru prions and sporadic Creutzfeldt-Jakob disease prions have equivalent transmission properties in transgenic and wild-type miceThe toxicity of antiprion antibodies is mediated by the flexible tail of the prion proteinQuantitative amyloid imaging using image-derived arterial input functionGenome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNPGenotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseasesPredictive testing for inherited prion disease: report of 22 years experience.Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteinsGerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.The diagnosis of young-onset dementia.Molecular pathology of human prion disease.A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.Review: contribution of transgenic models to understanding human prion disease.Octarepeat region flexibility impacts prion function, endoproteolysis and disease manifestationThe cognitive profile of prion disease: a prospective clinical and imaging study.Distinct Prion Domain Sequences Ensure Efficient Amyloid Propagation by Promoting Chaperone Binding or Processing In Vivo.Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.Quantifying prion disease penetrance using large population control cohortsProtease-sensitive prions with 144-bp insertion mutationsPhenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Review. The origin of the prion agent of kuru: molecular and biological strain typing.Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseases.Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease.Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral NeuropathyPrion disease: experimental models and reality.The genetics of prion diseases.Genetics of dementia: update and guidelines for the clinician.Prion protein and cancers.Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.Resistance of cell lines to prion toxicity aided by phospho-ERK expression.Clinical findings and diagnosis in genetic prion diseases in Germany.Huntington's disease phenocopies are clinically and genetically heterogeneous.Centiloid method evaluation for amyloid PET of subcortical vascular dementia.Methods for Molecular Diagnosis of Human Prion Disease.Microwave Synthesis of Prion Protein Fragments up to 111 Amino Acids in Length Generates Biologically Active Peptides
P2860
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P2860
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@ast
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@en
type
label
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@ast
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@en
prefLabel
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@ast
Inherited prion disease with s ...... s of phenotypic heterogeneity.
@en
P2093
P356
P1433
P1476
Inherited prion disease with s ...... is of phenotypic heterogeneity
@en
P2093
Andrew King
Jacqueline M Linehan
John Collinge
Mark Poulter
Melanie Desbruslais
Peter Lantos
Simon Mead
Susan Joiner
Tracy A Campbell
P304
P356
10.1093/BRAIN/AWL226
P407
P577
2006-09-01T00:00:00Z