(Q28732285)

Carlos Cruchaga

1

0 references

Ramon Diaz-Arrastia

Ramon Diaz-Arrastia

10

0 references

Alison Goate

Alison M Goate

18

0 references

Tatiana Foroud

11

Tatiana M Foroud

0 references

Richard Mayeux

17

Richard Mayeux

0 references

Bradley F Boeve

12

Bradley F Boeve

0 references

Kelley M Faber

7

Kelley Faber

0 references

Robi D Mitra

6

Robi D Mitra

0 references

Neill R Graff-Radford

13

Neill R Graff-Radford

0 references

Sumitra Chakraverty

3

Sumitra Chakraverty

0 references

Francesco Vallania

5

Francesco L M Vallania

0 references

Thomas Bird

9

Tom Bird

0 references

Margaret G Ehm

16

Margaret G Ehm

0 references

author name string

Kevin Mayo

4

0 references

Jennifer Williamson

8

0 references

Pamela St Jean

14

0 references

Michael Lawson

Creative Commons Attribution 4.0 International

15

0 references

language of work or name

English

0 references

publication date

2012

0 references

published in

PLOS One

0 references

volume

7

0 references

issue

2

0 references

page(s)

e31039

0 references

copyright license

start time

1 February 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

17 March 2017

1 reference

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

17 March 2017

1 reference

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Role of Genes and Environments for Explaining Alzheimer Disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

High-throughput discovery of rare insertions and deletions in large cohorts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Genome-wide analysis of genetic loci associated with Alzheimer disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Genetics of Alzheimer disease in the pre- and post-GWAS era

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Quantification of rare allelic variants from pooled genomic DNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Novel exon 1 progranulin gene variant in Alzheimer's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Full-exon resequencing reveals toll-like receptor variants contribute to human susceptibility to tuberculosis disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Characteristics of frontotemporal dementia patients with a Progranulin mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Autosomal dominant dementia with widespread neurofibrillary tangles.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Screening for the APP codon 670/671 mutations in Alzheimer's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

20 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Familial patterns of risk in very late-onset Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Variability of familial risk of Alzheimer disease across the late life span.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031039

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270040

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0031039

1 reference

ADS bibcode

2012PLoSO...731039C

0 references

1 reference

1 reference

PubMed publication ID

22312439

1 reference