(Q33590273)

28 July 2017

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies (English)

1 reference

28 July 2017

Doh-ura K

2

1 reference

28 July 2017

C. Tranchant

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

K. Doh-ura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

J. M. Warter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

G. Steinmetz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

Y. Chevalier

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

A. Hanauer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

T. Kitamoto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

J. Tateishi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

16 September 2022

language of work or name

English

0 references

publication date

1 March 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1014721

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

https://europepmc.org/articles/PMC1014721?pdf=render

16 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348783

Journal of Neurology, Neurosurgery and Psychiatry

16 September 2022

published in

1 reference

28 July 2017

55

1 reference

28 July 2017

3

1 reference

28 July 2017

185-187

1 reference

Diagnosis of Creutzfeldt-Jakob disease by Western blot identification of marker protein in human brain tissue.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Efficient computations in multilocus linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Distinct prion proteins in short and long scrapie incubation period mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

A PvuII RFLP detected in the human prion protein (PrP) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Straussler-Scheinker syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Aminoacid polymorphism in human prion protein and age at death in inherited prion disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Familial neurological disease associated with spongiform encephalopathy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

[Familial presenile dementia: Gerstmann-Sträussler-Scheinker's syndrome (author's transl)]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler syndrome with an analysis of the various forms of amyloid plaque deposition in the virus-induced spongiform encephalopathies

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Spontaneous neurodegeneration in transgenic mice with mutant prion protein

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1014721

Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis

31 October 2018

1 reference

12 December 2020

Linkage of prion protein and scrapie incubation time genes

1 reference

12 December 2020

Prions and neurodegenerative diseases

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.55.3.185

1 reference

28 July 2017

1 reference

28 July 2017

1 reference