Novel mutation of the PRNP gene of a clinical CJD case (Q21261755)

ORCID Public Data File 2021

4

Helen Latsoudis

Helen

Latsoudis

1 reference

19 August 2022

Konstantia Kotta

1

Konstantia

Kotta

1 reference

19 August 2022

Ioannis Paspaltsis

2

Ioannis

Paspaltsis

1 reference

19 August 2022

Sevasti Bostantjopoulou

3

Sevasti

Bostantjopoulou

1 reference

19 August 2022

Andreas Plaitakis

5

Andreas

Plaitakis

1 reference

19 August 2022

Dimitrios Kazis

6

Dimitrios

Kazis

1 reference

19 August 2022

John Collinge

7

John

Collinge

1 reference

19 August 2022

Theodoros Sklaviadis

8

Theodoros

Sklaviadis

1 reference

NMR solution structure of the human prion protein

19 August 2022

language of work or name

English

0 references

publication date

2006

0 references

published in

BMC Infectious Diseases

0 references

volume

6

0 references

issue

1

0 references

page(s)

169

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Mutations of the prion protein gene phenotypic spectrum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Mice devoid of PrP are resistant to scrapie

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Novel proteinaceous infectious particles cause scrapie

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Genetic influence on the structural variations of the abnormal prion protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Clinical aspects of human spongiform encephalopathies, with the exception of iatrogenic forms

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

Basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease

30 May 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

Genetic prion disease: the EUROCJD experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

Isoform pattern of 14-3-3 proteins in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

Molecular evolution of the mammalian prion protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186/1471-2334-6-169

Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1693557

High incidence of genetic human transmissible spongiform encephalopathies in Italy

29 November 2018

1 reference

12 December 2020

Analysis of PRNP gene codon 129 polymorphism in the Greek population

1 reference

12 December 2020

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

1 reference

12 December 2020

Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2334-6-169

0 references