Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene (Q34658379)

3 August 2017

Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene (English)

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Creutzfeldt-Jakob disease

3 August 2017

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Maria Puopolo

3

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Maurizio Pocchiari

object named as

Maurizio Pocchiari

1

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author name string

Anna Poleggi

2

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3 August 2017

Marco D'Alessandro

4

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3 August 2017

Dorina Tiple

5

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3 August 2017

Anna Ladogana

6

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3 August 2017

language of work or name

English

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publication date

2 April 2013

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3 August 2017

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3 August 2017

8

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3 August 2017

4

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3 August 2017

e60376

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Creative Commons Attribution 4.0 International

3 August 2017

start time

2 April 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Rate of de novo mutations and the importance of father's age to disease risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Iatrogenic Creutzfeldt-Jakob disease, final assessment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Oxidation of Helix-3 methionines precedes the formation of PK resistant PrP.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

7 July 2018

Prion disease genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Metal microcrystal pollutants: the heat resistant, transmissible nucleating agents that initiate the pathogenesis of TSEs?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Trinucleotide repeats not the only cause of anticipation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Anticipation in familial leukemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Anticipation: an old idea in new genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Genetic prion disease: the EUROCJD experience.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

Patterns of inheritance in familial ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

Methodologic pitfalls in the determination of genetic anticipation: the case of Crohn disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

Transmission of sporadic Creutzfeldt-Jakob disease by blood transfusion: risk factor or possible biases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060376

Geographic accumulation of Creutzfeldt-Jakob disease in Slovakia--environmental metal imbalance as a possible cofactor.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Japanese Creutzfeldt-Jakob disease patients exhibiting high incidence of the E200K PRNP mutation and located in the basin of a river.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3614945

Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin

26 October 2018

1 reference

12 December 2020

Inbreeding coefficients from isonymy in the Italian-Greek villages

1 reference

12 December 2020

Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

1 reference

12 December 2020

High incidence of genetic human transmissible spongiform encephalopathies in Italy

1 reference

12 December 2020

The problem of anticipation in pedigrees of dystrophia myotonica

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0060376

Identifiers

DOI

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3 August 2017

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3 August 2017

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