(Q53396036)

English

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

scientific article published on 27 February 2018

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. (English)

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Alzheimer's disease

1 reference

based on heuristic

inferred from title

8

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Lindsay A. Farrer

12

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

object named as

Elizabeth E Blue

1

0 references

Jennifer Elizabeth Below

object named as

Jennifer E Below

7

1 reference

ORCID Public Data File 2021

Alejandro Q Nato

object named as

Alejandro Q Nato

24

0 references

Kathryn L. Lunetta

object named as

Kathryn L Lunetta

20

0 references

41

object named as

Richard Mayeux

1 reference

Europe PubMed Central

13 May 2018

Christiane Reitz

27

object named as

Christiane Reitz

1 reference

Europe PubMed Central

13 May 2018

Cornelia M. van Duijn

35

object named as

Cornelia van Duijn

1 reference

Europe PubMed Central

13 May 2018

Eric Boerwinkle

38

object named as

Eric Boerwinkle

1 reference

Europe PubMed Central

13 May 2018

31

object named as

Sudha Seshadri

1 reference

Europe PubMed Central

13 May 2018

Jonathan L Haines

14

object named as

Jonathan Haines

1 reference

Europe PubMed Central

13 May 2018

2

object named as

Joshua C Bis

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Ellen M. Wijsman

42

object named as

Ellen M Wijsman

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Gerard D Schellenberg

30

object named as

Gerard D Schellenberg

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

17

object named as

Brian Kunkle

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

23

object named as

Adam Naj

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Margaret A. Pericak-Vance

40

object named as

Margaret A Pericak-Vance

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Anita L DeStefano

11

object named as

Anita DeStefano

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

4

object named as

Debby W Tsuang

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

13

object named as

Alison Goate

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Carlos Cruchaga

10

object named as

Carlos Cruchaga

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

16

object named as

Gyungah Jun

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

5

object named as

Sandra M Barral

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

18

object named as

Amanda Kuzma

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Timothy A Thornton

33

object named as

Timothy A Thornton

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

William J Salerno

29

object named as

William Salerno

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

author name string

Michael O Dorschner

3

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Gary Beecham

6

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Mariusz Butkiewicz

9

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Jim Jaworski

15

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Jenny J Lee

19

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Yiyi Ma

21

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Eden Martin

22

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Patrick Navas

25

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Hiep Nguyen

26

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Dolly Reyes

28

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Harkirat Sohi

32

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Otto Valadares

34

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Badri N Vardarajan

36

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Li-San Wang

37

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Josée Dupuis

39

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

on behalf of the Alzheimer’s Disease Sequencing Project

43

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

publication date

27 February 2018

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Dementia and Geriatric Cognitive Disorders

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

45

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

1-17

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

1-2

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

The Alzheimer's Disease Sequencing Project: Study design and sample selection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Neuropsychological Profiles Differentiate Alzheimer Disease from Subcortical Ischemic Vascular Dementia in an Autopsy-Defined Cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Comparative Diagnostic Accuracy of the ACE-III, MIS, MMSE, MoCA, and RUDAS for Screening of Alzheimer Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Apolipoprotein E and Alzheimer's disease: the influence of apolipoprotein E on amyloid-β and other amyloidogenic proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Genomic variants, genes, and pathways of Alzheimer's disease: An overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

The Ensembl Variant Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Molecular genetics of early-onset Alzheimer's disease revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

TREM2 variants: new keys to decipher Alzheimer disease pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

PGRN Is Associated with Late-Onset Alzheimer's Disease: a Case-Control Replication Study and Meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Pharmacological targeting of CSF1R inhibits microglial proliferation and prevents the progression of Alzheimer's-like pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

The UCSC Genome Browser database: 2016 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Apolipoprotein E e4 and Cognitive Function: A Modifiable Association Results from Two Independent Cohort Studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A global reference for human genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Disease-related mutations among Caribbean Hispanics with familial dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in 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=5971141

25 August 2018

Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 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=5971141

25 August 2018

Apolipoprotein Ε ε4 frequency is increased among Chinese patients with frontotemporal dementia and Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

GEMINI: integrative exploration of genetic variation and genome annotations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

APOE ε4 increases risk for dementia in pure synucleinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

TREM2 R47H variant as a risk factor for early-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=5971141

25 August 2018

Predicting functional effect of human missense mutations using PolyPhen-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Optimal tests for rare variant effects in sequencing association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Apolipoprotein E gene polymorphism in a Chinese population with vascular dementia: a meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 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=5971141

25 August 2018

An integrative variant analysis suite for whole exome next-generation sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Rare-variant association testing for sequencing data with the sequence kernel association test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A framework for variation discovery and genotyping using 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=5971141

25 August 2018

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 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=5971141

25 August 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=5971141

25 August 2018

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Fast and accurate long-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=5971141

25 August 2018

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Transcriptional profiling of Alzheimer blood mononuclear cells by microarray

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Lewy bodies in progressive supranuclear palsy represent an independent disease process

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Distribution and intensity of constraint in mammalian genomic sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Microglia overexpressing the macrophage colony-stimulating factor receptor are neuroprotective in a microglial-hippocampal organotypic coculture system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Expression of macrophage colony-stimulating factor receptor is increased in the AbetaPP(V717F) transgenic mouse model of Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A polymorphism in the tau gene associated with 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=5971141

25 August 2018

Online Mendelian Inheritance in Man (OMIM).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Autosomal dominant dementia with widespread neurofibrillary tangles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

A familial Alzheimer's disease locus on chromosome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 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=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Deposition of amyloid (A4) protein within the brains of persons with dementing disorders other than Alzheimer's disease and Down's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

25 August 2018

Cognitive Function, APOE Gene Polymorphisms, and Thyroid Status Associations in Postmenopausal Women in Poland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

30 November 2018

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5971141

30 November 2018

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/29486463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A database of locus-specific databases

1 reference

https://pubmed.ncbi.nlm.nih.gov/29486463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/29486463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1159/000485503

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

release_m3inwifanzfwdgdljqxnqfzslm

1 reference

https://api.fatcat.wiki/v0/release/m3inwifanzfwdgdljqxnqfzslm

24 November 2022

based on heuristic

mapped directly with Wikidata item

0 references

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/29486463

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q53396036&oldid=1929781995"