Evidence for a pathogenic role of different mutations at codon 188 of PRNP (Q33334421)

25 July 2017

Evidence for a pathogenic role of different mutations at codon 188 of PRNP (English)

1 reference

25 July 2017

7

Thomas Illig

0 references

Thomas Arzberger

9

object named as

Thomas Arzberger

1 reference

25 July 2017

Sigrun Roeber

1

1 reference

25 July 2017

Eva-Maria Grasbon-Frodl

2

1 reference

25 July 2017

Otto Windl

3

1 reference

25 July 2017

Bjarne Krebs

4

1 reference

25 July 2017

Wei Xiang

5

1 reference

25 July 2017

Caren Vollmert

6

1 reference

25 July 2017

Andreas Schröter

8

1 reference

25 July 2017

Petra Weber

10

1 reference

25 July 2017

Inga Zerr

11

1 reference

25 July 2017

Hans A Kretzschmar

12

1 reference

25 July 2017

language of work or name

English

0 references

publication date

14 May 2008

1 reference

25 July 2017

1 reference

25 July 2017

3

1 reference

25 July 2017

e2147

1 reference

25 July 2017

5

1 reference

Creative Commons Attribution 4.0 International

25 July 2017

start time

14 May 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

KORA--a research platform for population based health research

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Clinical features of Creutzfeldt-Jakob disease with V180I mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Mutations of the prion protein gene phenotypic spectrum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Cellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Subcellular localization of wild-type and Parkinson's disease-associated mutant alpha -synuclein in human and transgenic mouse brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

The paraffin-embedded tissue blot detects PrP(Sc) early in the incubation time in prion diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Molecular genetic studies of Creutzfeldt-Jakob disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Prion protein gene variation among primates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

A candidate marsupial PrP gene reveals two domains conserved in mammalian PrP proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Genetic prion disease: the EUROCJD experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Molecular genetics of human prion diseases in Germany.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Association of an 11-12 kDa protease-resistant prion protein fragment with subtypes of dura graft-associated Creutzfeldt-Jakob disease and other prion diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Lateralized and focal clinical, EEG, and FLAIR MRI abnormalities in Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2366066

Epidemiologie und klinische Symptomatik der Creutzfeldt-Jakob-Krankheit

31 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002147

[Visual evoked potentials in Creutzfeldt-Jakob disease]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18478114

12 December 2020

inferred from PubMed ID database lookup

Cerebrospinal fluid concentration of neuron-specific enolase in diagnosis of Creutzfeldt-Jakob disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18478114

12 December 2020

inferred from PubMed ID database lookup

Human transmissible spongiform encephalopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18478114

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0002147

1 reference

release_5tu5ura7ibcfzcvsiljdam5me4

25 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5tu5ura7ibcfzcvsiljdam5me4

24 November 2022

mapped directly with Wikidata item

PMCID

2366066

1 reference

25 July 2017

1 reference