(Q48488880)

12 February 2018

title

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

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12 February 2018

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12 February 2018

Matthew J. Farrer

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12 February 2018

Katrina Gwinn

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12 February 2018

Sarah Lincoln

object named as

Lincoln S

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12 February 2018

author name string

Crook R

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12 February 2018

Verkkoniemi A

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12 February 2018

Mehta N

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12 February 2018

Baker M

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12 February 2018

Houlden H

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12 February 2018

Hutton M

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12 February 2018

Hardy J

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12 February 2018

Somer M

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12 February 2018

Paetau A

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12 February 2018

Kalimo H

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12 February 2018

Ylikoski R

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12 February 2018

Pöyhönen M

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12 February 2018

Kucera S

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12 February 2018

Haltia M

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12 February 2018

language of work or name

English

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publication date

1 April 1998

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12 February 2018

published in

Nature Medicine

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12 February 2018

volume

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12 February 2018

issue

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12 February 2018

page(s)

452-455

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12 February 2018

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

cites work

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https://api.crossref.org/works/10.1038%2FNM0498-452

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FNM0498-452

Amyloid, the presenilins and Alzheimer's disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FNM0498-452

The presenilins and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

21 January 2018

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https://api.crossref.org/works/10.1038%2FNM0498-452

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

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/10.1038%2FNM0498-452

7 January 2021

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.

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https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

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https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

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https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Alzheimer's disease: a description of the structural lesions

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

In vitro formation of amyloid fibrils from two synthetic peptides of different lengths homologous to Alzheimer's disease beta-protein

1 reference

https://api.crossref.org/works/10.1038%2FNM0498-452

7 January 2021

Identifiers

DOI

10.1038/NM0498-452

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12 February 2018

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12 February 2018