Prion disease genetics (Q36359872)

13 August 2017

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title

Prion disease genetics (English)

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13 August 2017

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Simon Mead

1

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13 August 2017

1 March 2006

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European Journal of Human Genetics

13 August 2017

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13 August 2017

14

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13 August 2017

3

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13 August 2017

273-281

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201544

13 August 2017

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cites work

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Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent

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Insertion in prion protein gene in familial Creutzfeldt-Jakob disease

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7 January 2021

Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome

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7 January 2021

A new variant of Creutzfeldt-Jakob disease in the UK.

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7 January 2021

Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD.

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7 January 2021

Projections of the future course of the primary vCJD epidemic in the UK: inclusion of subclinical infection and the possibility of wider genetic susceptibility

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7 January 2021

Variant Creutzfeldt-Jakob disease.

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7 January 2021

The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer's disease

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7 January 2021

Molecular genetics of human prion diseases in Germany.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Identification of a PRNP gene mutation in Jakob's original Creutzfeldt-Jakob disease family

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Diagnosis and incidence of prion (Creutzfeldt-Jakob) disease: a retrospective archival survey with implications for future research

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7 January 2021

Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.

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7 January 2021

Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.

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7 January 2021

Recent Italian FFI cases.

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7 January 2021

Clinical characteristics of familial and sporadic Creutzfeldt-Jakob disease in Finland.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Rational targeting for prion therapeutics.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Allelic origin of the abnormal prion protein isoform in familial prion diseases

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Inherited prion disease (PrP lysine 200) in Britain: two case reports

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Do Creutzfeldt-Jakob disease patients of Jewish Libyan origin have unique clinical features?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Two novel insertions in the prion protein gene in patients with late-onset dementia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Prion disease with 144 base pair insertion in a Japanese family line.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Octapeptide repeat insertions in the prion protein gene and early onset dementia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

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)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Familial cerebral amyloidosis and spongiform encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Phenotypic variability in fatal familial insomnia (D178N-129M) genotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Prion susceptibility and protective alleles exhibit marked geographic differences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Polymorphisms of the prion protein gene (PRNP) in a Korean population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Deletions in the prion protein gene are not associated with CJD.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Codon 129 genotype and new variant CJD

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

GENETICAL CONTROL OF THE INCUBATION PERIOD IN MICE OF THE NEUROLOGICAL DISEASE, SCRAPIE

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

HLA-DQ7 antigen and resistance to variant CJD.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

MHC typing in variant Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201544

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201544

1 reference

13 August 2017

1 reference

PubMed ID

16391566