(Q49050667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

early-onset autosomal dominant Alzheimer disease

3 November 2019

main subject

Alzheimer's disease

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

R Queralt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Ezquerra

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Lleó

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Blesa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

R Oliva

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

239-241

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

High apolipoprotein E epsilon 4 allele frequency in age-related memory decline.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Mutation analysis of presenillin 1 gene in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

The presenilin genes: a new gene family involved in Alzheimer disease pathology

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

The molecular and genetic basis of AD: the end of the beginning: the 2000 Wartenberg lecture.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2901498-7

7 January 2021

10.1016/S0304-3940(01)01498-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11165779%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference