(Q35194968)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

main subject

prion protein family

0 references

fatal familial insomnia

1 reference

Medori R

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Tritschler HJ

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

822-827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

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

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Intrafamilial variability in fucosidosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

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=1682394

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=1682394

Codon 129 changes in the prion protein gene in Caucasians

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Mouse and hamster mutants as models for Waardenburg syndromes in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Prion dementia without characteristic pathology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Fatal familial insomnia: clinical and pathologic study of five new cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob 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=1682394

Molecular biology of prion diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Genetic predisposition to iatrogenic Creutzfeldt-Jakob 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=1682394

Insertions in the prion protein gene in atypical dementias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

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=1682394

Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

The phenotypic expression of different mutations in transmissible human 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=1682394

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Production of single-stranded DNA for sequencing: an alternative approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein 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=1682394

Familial Creutzfeldt-Jakob 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=1682394

Familial Creutzfeldt-Jakob disease. A clinical and pathological study of three cases in a family with eight affected members in three generations (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=1682394

NEURONAL ENZYMATIC FAILURE IN CREUTZFELDT-JAKOB DISEASE; A FAMILIAL STUDY.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Creutzfeldt-Jakob disease. II. Clinical, pathologic, and genetic study of a family.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Creutzfeldt-Jakob disease in France. Value of familial forms. Is there a gene controlling the length of the incubation period?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Subacute familial thalamic atrophy. Memory disorders and complete insomnia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682394

New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8105681

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8105681

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8105681%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference