No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. (Q33677657)

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English	No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.	scientific article

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20 October 2019

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group (English)

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20 October 2019

Alzheimer's disease

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

11

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20 October 2019

Françoise Clerget-Darpoux

13

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20 October 2019

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D Campion

1

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20 October 2019

A Brice

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20 October 2019

D Hannequin

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20 October 2019

F Charbonnier

4

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20 October 2019

B Dubois

5

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20 October 2019

C Martin

6

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20 October 2019

A Michon

7

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20 October 2019

C Penet

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20 October 2019

M Bellis

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20 October 2019

A Calenda

10

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20 October 2019

Y Agid

12

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20 October 2019

T Frebourg

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20 October 2019

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publication date

1 August 1996

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20 October 2019

Journal of Medical Genetics

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20 October 2019

33

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20 October 2019

8

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Europe PubMed Central

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20 October 2019

661-664

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8863158%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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

1 reference

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21 June 2018

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

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21 June 2018

Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.

1 reference

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21 June 2018

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

1 reference

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21 June 2018

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

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21 June 2018

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

1 reference

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21 June 2018

Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds.

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21 June 2018

Molecular genetics of Alzheimer disease: identification of genes and gene mutations

1 reference

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

Epistatic effect of APP717 mutation and apolipoprotein E genotype in 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=1050700

21 June 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=1050700

21 June 2018

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

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21 June 2018

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

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21 June 2018

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

Segregation of a missense mutation in the amyloid precursor protein gene with 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=1050700

21 June 2018

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

1 reference

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21 June 2018

Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050700

21 June 2018

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

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21 June 2018

Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.

1 reference

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30 October 2018

A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.

1 reference

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30 October 2018

APP717 and Alzheimer's disease in Italy.

1 reference

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30 October 2018

Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology.

1 reference

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30 October 2018

Alzheimer's disease and possible gene interaction.

1 reference

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30 October 2018

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

1 reference

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30 October 2018

Mis-sense mutation Val&rarr;Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease

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30 October 2018

D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene

1 reference

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12 December 2020

based on heuristic

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Highly polymorphic repeat marker within the ?-amyloid precursor protein gene

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8863158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.8.661

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8863158%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PMC publication ID

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Europe PubMed Central

PMC publication ID

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20 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

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20 October 2019

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