(Q34538196)

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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

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Europe PubMed Central

PubMed publication ID

2 August 2017

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease (English)

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Europe PubMed Central

PubMed publication ID

2 August 2017

Alzheimer's disease

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1 reference

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Jenny Lord

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object named as

James Turton

15

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Richard Killick

object named as

Richard Killick

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object named as

Jose Bras

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Jean-Marc Gallo

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Jean-Marc Gallo

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object named as

Claire Troakes

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object named as

Kevin Morgan

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John Anthony Hardy

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object named as

John Hardy

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Europe PubMed Central

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2 August 2017

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object named as

Rita Guerreiro

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Europe PubMed Central

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2 August 2017

Andrew Singleton

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object named as

Andrew Singleton

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Europe PubMed Central

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2 August 2017

Michelle K Lupton

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object named as

Michelle K Lupton

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Europe PubMed Central

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2 August 2017

1

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Celeste Sassi

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Europe PubMed Central

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2 August 2017

Christopher Medway

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object named as

Christopher Medway

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Europe PubMed Central

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2 August 2017

7

object named as

Safa Al-Sarraj

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Europe PubMed Central

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2 August 2017

author name string

Raphael Gibbs

3

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Europe PubMed Central

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2 August 2017

Jinhui Ding

4

1 reference

Europe PubMed Central

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2 August 2017

Michael Niblock

8

1 reference

Europe PubMed Central

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2 August 2017

Jihad Adnan

10

1 reference

Europe PubMed Central

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2 August 2017

Kristelle S Brown

12

1 reference

Europe PubMed Central

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2 August 2017

Alzheimer's Research UK Consortium

17

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Europe PubMed Central

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2 August 2017

John F Powell

19

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2 August 2017

publication date

16 June 2014

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Europe PubMed Central

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2 August 2017

Neurobiology of Aging

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Europe PubMed Central

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2 August 2017

35

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Europe PubMed Central

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2 August 2017

12

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Europe PubMed Central

PubMed publication ID

2 August 2017

2881.e1-6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

TREM2 Variants in Alzheimer's Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Accuracy of the clinical diagnosis of Alzheimer disease at National Institute on Aging Alzheimer Disease Centers, 2005-2010.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Repeat expansion in C9ORF72 in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Genome-wide analysis of genetic loci associated with Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

A thorough assessment of benign genetic variability in GRN and MAPT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Serum- and glucocorticoid-inducible kinase 1 (SGK1) increases neurite formation through microtubule depolymerization by SGK1 and by SGK1 phosphorylation of tau

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Role of Genes and Environments for Explaining Alzheimer Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Alzheimer's disease in Finnish twins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

7 July 2018

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

27 October 2018

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

27 October 2018

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

27 October 2018

Presenilin mutations line up along transmembrane alpha-helices.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

27 October 2018

Deletions in the prion protein gene are not associated with CJD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4236585

27 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of heredity in late-onset Alzheimer disease and vascular dementia. A twin study

1 reference

https://pubmed.ncbi.nlm.nih.gov/25104557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.NEUROBIOLAGING.2014.06.002

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

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Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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