(Q48098476)

English

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

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scholarly article

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. (English)

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Alzheimer's disease

0 references

Dennis W. Dickson

6

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

John Anthony Hardy

4

object named as

John Hardy

1 reference

Europe PubMed Central

8 February 2018

author name string

Antony E Shrimpton

1

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Robert L Schelper

2

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Reinhold P Linke

3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Richard Crook

5

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Takashi Ishizawa

7

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

Richard L Davis

8

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

publication date

1 June 2007

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

27

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

3

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

228-232

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Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

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/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Alzheimer's disease with spastic paresis and cotton wool type plaques

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Are presenilins intramembrane-cleaving proteases? Implications for the molecular mechanism of Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Aph-1, Pen-2, and Nicastrin with Presenilin generate an active gamma-Secretase complex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Dementia and adult-onset unprovoked seizures.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2007.00766.X

21 January 2018

Identifiers

10.1111/J.1440-1789.2007.00766.X

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/17645236

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