Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation. (Q42735789)

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scientific article published on December 2007

Language	Label	Description	Also known as
English	Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.	scientific article published on December 2007

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

0 references

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Alzheimer's disease

0 references

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Christine Tranchant

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

D Hannequin

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Boulay

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Martin

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

D Campion

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

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publication date

1 December 2007

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

78

1 reference

Europe PubMed Central

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27 December 2019

12

1 reference

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27 December 2019

1414-1415

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

Early-onset Alzheimer's disease in 2 large Belgian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

27 May 2018

Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

16 August 2018

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

16 August 2018

Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

16 August 2018

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

16 August 2018

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095586

16 August 2018

Identifiers

10.1136/JNNP.2007.123026

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024701%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

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