Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene (Q33733564)

29 July 2017

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

1 reference

Creutzfeldt-Jakob disease

29 July 2017

0 references

1 reference

based on heuristic

inferred from title

inherited Creutzfeldt–Jakob disease

1 reference

10

Will RG

1 reference

29 July 2017

Nicholl D

1

1 reference

29 July 2017

Windl O

2

1 reference

29 July 2017

de Silva R

3

1 reference

29 July 2017

Sawcer S

4

1 reference

29 July 2017

Dempster M

5

1 reference

29 July 2017

Ironside JW

6

1 reference

29 July 2017

Estibeiro JP

7

1 reference

29 July 2017

Yuill GM

8

1 reference

29 July 2017

Lathe R

9

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

1 reference

29 July 2017

58

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29 July 2017

65-69

1 reference

29 July 2017

1

1 reference

A rare presenile dementia associated with cortical blindness (Heidenhain's syndrome).

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Novel missense variants of prion protein in Creutzfeldt-Jakob disease or 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=1073270

The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer's 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=1073270

Molecular cloning of a human prion protein cDNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-1979. II: Epidemiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related 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=1073270

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=1073270

An in-frame insertion in the prion protein gene in familial 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=1073270

Immunocytochemical confirmation of prion protein.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Prion dementia without characteristic pathology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Presymptomatic detection or exclusion of prion protein gene defects in families 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=1073270

Insertions in the prion protein gene in atypical dementias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

A dementing illness associated with a novel insertion 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=1073270

Dementia associated with a 216 base pair insertion in the prion protein gene. Clinical and neuropathological features.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Molecular analysis and clinical correlations of the Huntington's disease mutation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Real and imagined clinicopathological limits of "prion dementia".

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

Spontaneous neurodegeneration in transgenic mice with mutant prion protein

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073270

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7823070

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.58.1.65

1 reference

29 July 2017

1 reference

29 July 2017

1 reference