(Q57419122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

early-onset Alzheimer's disease

7 November 2019

main subject

1 reference

Peter Henry St George-Hyslop

inferred from title

author

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

C Forsell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

S Froelich

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

K Axelman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Vestling

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

R F Cowburn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

L Lilius

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J A Johnston

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

B Engvall

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

K Johansson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Dahlkild

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Ingelson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

L Lannfelt

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

language of work or name

English

0 references

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

234

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

1

1 reference

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7 November 2019

page(s)

3-6

1 reference

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Apolipoprotein E and alpha1-antichymotrypsin genotypes and age of onset of familial Alzheimer's disease

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

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%2897%2900603-4

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%2897%2900603-4

7 January 2021

Amyloid precursor protein mutation at codon 713 (Ala-->Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent)

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

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%2897%2900603-4

7 January 2021

How sensitive is PCR-SSCP?

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

7 January 2021

Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

7 January 2021

A familial Alzheimer's disease locus on chromosome 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

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%2897%2900603-4

7 January 2021

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

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%2897%2900603-4

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%2897%2900603-4

7 January 2021

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900603-4

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%2897%2900603-4

7 January 2021

10.1016/S0304-3940(97)00603-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9347932%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference