(Q34674582)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

posterior cortical atrophy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Beata Borzemska

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Slawomir Filipek

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Dorota Religa

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maria Barcikowska

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jarosław Sławek

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Cezary Zekanowski

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

5

Anna Barczak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Ewa Narożańska

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Maria Styczyńska

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Krzysztof Mlynarczyk

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Bogna Brockhuis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Erik Portelius

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

12 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

e61074

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

28 February 2020

copyright license

start time

12 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

7 July 2018

1 reference

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Posterior cortical atrophy: an exemplar for renovating diagnostic formulation in neuropsychiatry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Functional and topological analysis of Pen-2, the fourth subunit of the gamma-secretase complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Increased metabolic vulnerability in early-onset Alzheimer's disease is not related to amyloid burden

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Masking of transmembrane-based retention signals controls ER export of gamma-secretase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Focal cortical presentations of Alzheimer's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Cognitive differences between early- and late-onset Alzheimer's disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Multipass membrane protein structure prediction using Rosetta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Pen-2 is incorporated into the gamma-secretase complex through binding to transmembrane domain 4 of presenilin 1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Evidence that the "NF" motif in transmembrane domain 4 of presenilin 1 is critical for binding with PEN-2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Progressive posterior cortical dysfunction: a clinicopathologic series

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Making optimal use of empirical energy functions: force-field parameterization in crystal space

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

A point-charge force field for molecular mechanics simulations of proteins based on condensed-phase quantum mechanical calculations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Protein-protein docking with simultaneous optimization of rigid-body displacement and side-chain conformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Atypical form of Alzheimer's disease with prominent posterior cortical atrophy: a review of lesion distribution and circuit disconnection in cortical visual pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

Posterior cortical atrophy

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Posterior cortical atrophy. Neuropathologic correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Posterior cortical atrophy: clinical characteristics and differences compared to Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

What are we seeing? Is posterior cortical atrophy just Alzheimer disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Cognitive phenotypes in Alzheimer's disease and genetic risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

CSF-tau and CSF-Abeta(1-42) in posterior cortical atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

CSF biomarkers in posterior cortical atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

An Alzheimer disease presenilin mutation, syndrome diversity, and a shrinking world.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Long-standing prion dementia manifesting as posterior cortical atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Prion protein gene M129 allele is a risk factor for Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Simultaneous measurement of beta-amyloid(1-42), total tau, and phosphorylated tau (Thr181) in cerebrospinal fluid by the xMAP technology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Early-versus late-onset Alzheimer's disease: more than age alone

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

The cognitive profile of posterior cortical atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Presenilins: how much more than γ-secretase?!

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061074

Confirmation of the amyloidogenic process in posterior cortical atrophy: value of the Aβ42/Aβ40 ratio.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625161

How does the genetic assassin select its neuronal target?

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23593396

12 December 2020

inferred from PubMed ID database lookup

Presenilin-2 gene mutation presenting as Lewy Body dementia?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23593396

12 December 2020

inferred from PubMed ID database lookup

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23593396

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0061074

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

0 references

release_umduvuwfgramhc35ce4owmvnky

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/umduvuwfgramhc35ce4owmvnky

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

23593396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593396%20AND%20SRC:MED&resulttype=core&format=json