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

25 July 2017

title

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

1 reference

25 July 2017

7

Thomas Illig

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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

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25 July 2017

Inga Zerr

11

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25 July 2017

Hans A Kretzschmar

12

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25 July 2017

language of work or name

English

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publication date

14 May 2008

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25 July 2017

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25 July 2017

volume

3

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25 July 2017

issue

5

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25 July 2017

page(s)

e2147

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Creative Commons Attribution 4.0 International

25 July 2017

copyright license

start time

14 May 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

21 June 2018

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Clinical features of Creutzfeldt-Jakob disease with V180I mutation

21 June 2018

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Mutations of the prion protein gene phenotypic spectrum

21 June 2018

1 reference

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

1 reference

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Molecular genetic studies of Creutzfeldt-Jakob disease

21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

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Prion protein gene variation among primates

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

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Genetic prion disease: the EUROCJD experience

21 January 2018

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Molecular genetics of human prion diseases in Germany

21 January 2018

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

21 January 2018

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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

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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

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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

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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

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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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Epidemiologie und klinische Symptomatik der Creutzfeldt-Jakob-Krankheit

31 October 2018

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[Visual evoked potentials in Creutzfeldt-Jakob disease]

21 January 2018

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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

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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

PMC publication ID

2366066

1 reference

25 July 2017

1 reference