Prion disease genetics

scientific article

Prion disease genetics is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1038/SJ.EJHG.5201544
P698PubMed publication ID16391566
P5875ResearchGate publication ID7379020

P2093author name stringSimon Mead
P2860cites workFirst report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseasesQ28145109
Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.Q28363814
Novel proteinaceous infectious particles cause scrapieQ29547678
Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotypeQ31713544
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 studiesQ33590273
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 geneQ33733564
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesQ34146052
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemicsQ34190049
Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patientQ34339769
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 diseaseQ34389352
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 geneQ34505186
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP geneQ34569015
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor geneQ34577743
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nucleiQ34692172
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 mutationQ34734603
Rational targeting for prion therapeutics.Q35990277
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker diseaseQ36174780
Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob diseaseQ36647882
Diagnosis and incidence of prion (Creutzfeldt-Jakob) disease: a retrospective archival survey with implications for future researchQ36824313
A Japanese family with a variant of Gerstmann-Sträussler-Scheinker diseaseQ36905045
Familial cerebral amyloidosis and spongiform encephalopathyQ37017727
Inherited prion disease (PrP lysine 200) in Britain: two case reportsQ38950859
Do Creutzfeldt-Jakob disease patients of Jewish Libyan origin have unique clinical features?Q39115309
Prion susceptibility and protective alleles exhibit marked geographic differencesQ39476298
Projections of the future course of the primary vCJD epidemic in the UK: inclusion of subclinical infection and the possibility of wider genetic susceptibilityQ40306174
MHC typing in variant Creutzfeldt-Jakob disease.Q40605429
Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein geneQ41091669
Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob diseaseQ41134643
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein geneQ41604182
The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer's diseaseQ41616299
Octapeptide repeat insertions in the prion protein gene and early onset dementiaQ41984985
An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaquesQ42601576
An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker familyQ42605007
Polymorphisms of the prion protein gene (PRNP) in a Korean populationQ42627401
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 syndromeQ43609064
Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotypeQ43783023
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob diseaseQ44391602
Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agentQ44592404
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 familiesQ45279178
A novel mutation (G114V) in the prion protein gene in a family with inherited prion diseaseQ46455479
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndromeQ46931937
The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotypeQ47199003
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob diseaseQ47199656
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 diseaseQ47965426
Two novel insertions in the prion protein gene in patients with lateonset dementiaQ48073209
Prion disease with 144 base pair insertion in a Japanese family lineQ48076727
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein geneQ48186188
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch typeQ48265529
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) genotypeQ48349371
Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein geneQ48352346
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.Q48367656
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsyQ48408594
Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological featuresQ48477322
Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studiesQ48477334
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutationQ48509318
The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindredQ48648013
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 GermanyQ48713992
Supranuclear gaze palsy in familial Creutzfeldt-Jakob diseaseQ48735161
APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathiesQ48789385
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphismQ48882672
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementiaQ48932219
Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein geneQ49024516
A prion disease with a novel 96-base pair insertional mutation in the prion protein geneQ49103297
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutationQ49103324
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 diseaseQ55671382
Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob diseaseQ59294063
Allelic origin of the abnormal prion protein isoform in familial prion diseasesQ59690434
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindredQ68292026
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein geneQ70987295
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 diseaseQ72586596
Identification of a PRNP gene mutation in Jakob's original Creutzfeldt-Jakob disease familyQ72682567
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129Q73067900
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutationQ73425530
Codon 129 genotype and new variant CJDQ73676228
Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob diseaseQ74148182
GENETICAL CONTROL OF THE INCUBATION PERIOD IN MICE OF THE NEUROLOGICAL DISEASE, SCRAPIEQ76851777
Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutationQ80363678
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 EuropeQ81245475
P433issue3
P921main subjectprion protein familyQ24724413
P304page(s)273-281
P577publication date2006-03-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titlePrion disease genetics
P478volume14