(Q39947096)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18727676%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment (English)

1 reference

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12 January 2020

1 reference

6

1 reference

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Peter Henry St George-Hyslop

12 January 2020

13

1 reference

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12 January 2020

Lis Frydenreich Hasholt

2

object named as

L Hasholt

1 reference

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12 January 2020

author name string

S G Lindquist

1

1 reference

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12 January 2020

J M C Bahl

3

1 reference

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12 January 2020

N H H Heegaard

4

1 reference

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12 January 2020

B B Andersen

5

1 reference

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12 January 2020

J Stokholm

7

1 reference

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12 January 2020

M Schwartz

8

1 reference

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12 January 2020

M Batbayli

9

1 reference

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12 January 2020

H Laursen

10

1 reference

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12 January 2020

R Pardossi-Piquard

11

1 reference

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12 January 2020

F Chen

12

1 reference

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12 January 2020

G Waldemar

14

1 reference

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12 January 2020

J E Nielsen

15

1 reference

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12 January 2020

publication date

22 August 2008

1 reference

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European Journal of Neurology

12 January 2020

published in

1 reference

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12 January 2020

volume

15

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12 January 2020

issue

10

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12 January 2020

page(s)

1135-1139

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

12 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Endogenous beta-amyloid production in presenilin-deficient embryonic mouse fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

Electrophoretic Separation of βA4 Peptides (1–40) and (1–42)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2008.02256.X

10.1111/J.1468-1331.2008.02256.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18727676%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference