review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Simon Mead | |
P2860 | cites work | First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases | Q28145109 |
Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. | Q28363814 | ||
Novel proteinaceous infectious particles cause scrapie | Q29547678 | ||
Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype | Q31713544 | ||
Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. | Q33575860 | ||
Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies | Q33590273 | ||
Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation. | Q33591914 | ||
Variant Creutzfeldt-Jakob disease. | Q33706965 | ||
Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene | Q33733564 | ||
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes | Q34146052 | ||
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics | Q34190049 | ||
Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient | Q34339769 | ||
A new variant of Creutzfeldt-Jakob disease in the UK. | Q34374893 | ||
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease | Q34389352 | ||
Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. | Q34403513 | ||
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene | Q34505186 | ||
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene | Q34569015 | ||
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene | Q34577743 | ||
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei | Q34692172 | ||
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. | Q34734259 | ||
Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation | Q34734603 | ||
Rational targeting for prion therapeutics. | Q35990277 | ||
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease | Q36174780 | ||
Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease | Q36647882 | ||
Diagnosis and incidence of prion (Creutzfeldt-Jakob) disease: a retrospective archival survey with implications for future research | Q36824313 | ||
A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease | Q36905045 | ||
Familial cerebral amyloidosis and spongiform encephalopathy | Q37017727 | ||
Inherited prion disease (PrP lysine 200) in Britain: two case reports | Q38950859 | ||
Do Creutzfeldt-Jakob disease patients of Jewish Libyan origin have unique clinical features? | Q39115309 | ||
Prion susceptibility and protective alleles exhibit marked geographic differences | Q39476298 | ||
Projections of the future course of the primary vCJD epidemic in the UK: inclusion of subclinical infection and the possibility of wider genetic susceptibility | Q40306174 | ||
MHC typing in variant Creutzfeldt-Jakob disease. | Q40605429 | ||
Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene | Q41091669 | ||
Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease | Q41134643 | ||
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene | Q41604182 | ||
The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer's disease | Q41616299 | ||
Octapeptide repeat insertions in the prion protein gene and early onset dementia | Q41984985 | ||
An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques | Q42601576 | ||
An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family | Q42605007 | ||
Polymorphisms of the prion protein gene (PRNP) in a Korean population | Q42627401 | ||
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. | Q42692446 | ||
Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome | Q43609064 | ||
Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype | Q43783023 | ||
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease | Q44391602 | ||
Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent | Q44592404 | ||
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families | Q45279178 | ||
A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease | Q46455479 | ||
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome | Q46931937 | ||
The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype | Q47199003 | ||
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease | Q47199656 | ||
Clinical characteristics of familial and sporadic Creutzfeldt-Jakob disease in Finland. | Q47260115 | ||
Recent Italian FFI cases. | Q47820777 | ||
Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits. | Q47950242 | ||
Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease | Q47965426 | ||
Two novel insertions in the prion protein gene in patients with lateonset dementia | Q48073209 | ||
Prion disease with 144 base pair insertion in a Japanese family line | Q48076727 | ||
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene | Q48186188 | ||
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type | Q48265529 | ||
Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. | Q48297442 | ||
Deletions in the prion protein gene are not associated with CJD. | Q48298363 | ||
Phenotypic variability in fatal familial insomnia (D178N-129M) genotype | Q48349371 | ||
Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein gene | Q48352346 | ||
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. | Q48367656 | ||
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy | Q48408594 | ||
Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features | Q48477322 | ||
Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies | Q48477334 | ||
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation | Q48509318 | ||
The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred | Q48648013 | ||
Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. | Q48672320 | ||
Molecular genetics of human prion diseases in Germany | Q48713992 | ||
Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease | Q48735161 | ||
APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies | Q48789385 | ||
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism | Q48882672 | ||
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia | Q48932219 | ||
Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene | Q49024516 | ||
A prion disease with a novel 96-base pair insertional mutation in the prion protein gene | Q49103297 | ||
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation | Q49103324 | ||
New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. | Q53917506 | ||
HLA-DQ7 antigen and resistance to variant CJD. | Q53987627 | ||
Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies. | Q54163435 | ||
Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease. | Q54660906 | ||
Insertion in prion protein gene in familial Creutzfeldt-Jakob disease | Q55671382 | ||
Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease | Q59294063 | ||
Allelic origin of the abnormal prion protein isoform in familial prion diseases | Q59690434 | ||
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred | Q68292026 | ||
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene | Q70987295 | ||
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation) | Q71512904 | ||
A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease | Q72586596 | ||
Identification of a PRNP gene mutation in Jakob's original Creutzfeldt-Jakob disease family | Q72682567 | ||
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129 | Q73067900 | ||
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation | Q73425530 | ||
Codon 129 genotype and new variant CJD | Q73676228 | ||
Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease | Q74148182 | ||
GENETICAL CONTROL OF THE INCUBATION PERIOD IN MICE OF THE NEUROLOGICAL DISEASE, SCRAPIE | Q76851777 | ||
Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation | Q80363678 | ||
The population distribution of the Met allele at the PRNP129 polymorphism (a high risk factor for Creutzfeldt-Jakob disease) in various regions of France and in West Europe | Q81245475 | ||
P433 | issue | 3 | |
P921 | main subject | prion protein family | Q24724413 |
P304 | page(s) | 273-281 | |
P577 | publication date | 2006-03-01 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Prion disease genetics | |
P478 | volume | 14 |