Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
about
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer diseaseSUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegansTransmissible Spongiform Encephalopathies Affecting HumansPrionsMolecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision MedicineSolution structure of a 142-residue recombinant prion protein corresponding to the infectious fragment of the scrapie isoformThree autosomal dominant corneal dystrophies map to chromosome 5qCellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseasesDistinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy.De novo generation of a transmissible spongiform encephalopathy by mouse transgenesisRationale for diagnosing human prion disease.Evidence for a pathogenic role of different mutations at codon 188 of PRNPLoss of anti-Bax function in Gerstmann-Sträussler-Scheinker syndrome-associated prion protein mutantsBiology and genetics of prions causing neurodegenerationClinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.Genetic studies in human prion diseases.Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease.Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia.Intracerebral distribution of the abnormal isoform of the prion protein in sporadic Creutzfeldt-Jakob disease and fatal insomnia.Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseasesCreutzfeldt-Jakob disease and the eye. I. Background and patient management.Human prion diseases.Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation.Bovine spongiform encephalopathy and Creutzfeldt-Jakob disease: implications for physicians.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Prions.Biot's breathing in a woman with fatal familial insomnia: is there a role for noninvasive ventilation?Experimental treatments for human transmissible spongiform encephalopathies: is there a role for pentosan polysulfate?Prion diseases. An overview.Molecular biology and pathology of prion strains in sporadic human prion diseases.The genetic and molecular regulation of sleep: from fruit flies to humans.Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphismInherited prion diseases.Molecular neurology of prion disease.Spongiform encephalopathy in transgenic mice expressing a point mutation in the β2-α2 loop of the prion protein.Proposed three-dimensional structure for the cellular prion proteinEndogenous proteolytic cleavage of normal and disease-associated isoforms of the human prion protein in neural and non-neural tissues.Etiology and pathogenesis of prion diseases.
P2860
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P2860
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@ast
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@en
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@nl
type
label
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@ast
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@en
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@nl
prefLabel
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@ast
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@en
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@nl
P2093
P1476
Fatal familial insomnia, a pri ...... 178 of the prion protein gene
@en
P2093
H J Tritschler
P Cortelli
P Montagna
P356
10.1056/NEJM199202133260704
P407
P577
1992-02-13T00:00:00Z