(Q43783034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

title

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

H Houlden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

R Crook

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

T Revesz

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

J Hardy

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

language of work or name

English

0 references

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

number of pages

1 reference

inferred from page(s)

published in

Neuroscience Letters

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

volume

313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

page(s)

93-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations

2 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

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%2801%2902254-6

7 January 2021

Molecular genetics of Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Plaque-only Alzheimer disease is usually the lewy body variant, and vice versa.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Presenilin mutations line up along transmembrane alpha-helices.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Amyloid, the presenilins and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Pathways to primary neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Additional evidence for an eight-transmembrane-domain topology for Caenorhabditis elegans and human presenilins

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

7 January 2021

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2801%2902254-6

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%2801%2902254-6

7 January 2021

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/10.1016%2FS0304-3940%2801%2902254-6

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%2801%2902254-6

7 January 2021

10.1016/S0304-3940(01)02254-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json

2 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11684347%20AND%20SRC:MED&resulttype=core&format=json