A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease (Q37099304)

18 August 2017

0 references

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease (English)

1 reference

early-onset Alzheimer's disease

18 August 2017

0 references

1 reference

based on heuristic

inferred from title

author

Christine Van Broeckhoven

27

Christine Van Broeckhoven

0 references

Julie van der Zee

3

Julie van der Zee

0 references

Tobi Van den Bossche

2

Tobi Van den Bossche

1 reference

18 August 2017

28

Kristel Sleegers

1 reference

18 August 2017

Sebastiaan Engelborghs

4

Sebastiaan Engelborghs

1 reference

18 August 2017

Jan Verheijen

1

0 references

Oriol Grau-Rivera

Oriol Grau-Rivera

20

0 references

Madalena Martins

Madalena Martins

19

0 references

Caroline Graff

Caroline Graff

7

0 references

Luisa Benussi

Luisa Benussi

12

0 references

Roberta Ghidoni

Roberta Ghidoni

13

0 references

Raquel Sanchez-Valle

Raquel Sanchez-Valle

5

0 references

Pau Pastor

Pau Pastor

9

0 references

María A Pastor

Maria A Pastor

11

0 references

Peter Paul De Deyn

26

Peter P De Deyn

1 reference

18 August 2017

Albert Llado Plarrumani

6

Albert Lladó

1 reference

18 August 2017

25

Patrick Cras

1 reference

18 August 2017

24

Lubina Dillen

1 reference

18 August 2017

8

Håkan Thonberg

1 reference

18 August 2017

10

Sara Ortega-Cubero

1 reference

18 August 2017

14

Giuliano Binetti

1 reference

18 August 2017

15

Jordi Clarimon

1 reference

18 August 2017

16

Alberto Lleó

1 reference

18 August 2017

22

Karolien Bettens

1 reference

18 August 2017

Juan Fortea

17

1 reference

18 August 2017

Alexandre de Mendonça

18

1 reference

18 August 2017

Ellen Gelpi

21

1 reference

18 August 2017

Ligia Mateiu

23

1 reference

18 August 2017

30 March 2016

1 reference

18 August 2017

Acta Neuropathologica

1 reference

18 August 2017

132

1 reference

18 August 2017

2

1 reference

18 August 2017

213-224

1 reference

Creative Commons Attribution 4.0 International

18 August 2017

start time

30 March 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00401-016-1566-9

0 references

cites work

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1 reference

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Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

14 September 2017

1 reference

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Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells

14 September 2017

1 reference

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SorLA complement-type repeat domains protect the amyloid precursor protein against processing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Coding mutations in SORL1 and Alzheimer disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

14 September 2017

1 reference

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Trimmomatic: a flexible trimmer for Illumina sequence data

14 September 2017

1 reference

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Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation

14 September 2017

1 reference

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Sequence kernel association test for survival traits.

14 September 2017

1 reference

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

An updated meta-analysis of the association between SORL1 variants and the risk for sporadic Alzheimer's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

RSeQC: quality control of RNA-seq experiments

14 September 2017

1 reference

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Optimal tests for rare variant effects in sequencing association studies

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

A new strategy to reduce allelic bias in RNA-Seq readmapping

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Autosomal recessive causes likely in early-onset Alzheimer disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

A graphical interface for the FoldX forcefield

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Integrative genomics viewer

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

SORLA/SORL1, a neuronal sorting receptor implicated in Alzheimer's disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Fast and accurate short read alignment with Burrows-Wheeler transform

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

The Vps10p-domain receptor family.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Molecular genetics of Alzheimer's disease: an update

14 September 2017

1 reference

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Loss of apolipoprotein E receptor LR11 in Alzheimer disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

novoSNP, a novel computational tool for sequence variation discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

SorLA is a molecular link for retromer-dependent sorting of the Amyloid precursor protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

The patterns of inheritance in early-onset dementia: Alzheimer's disease and frontotemporal dementia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4947104

Structural basis for amyloidogenic peptide recognition by sorLA

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27026413

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-016-1566-9

1 reference

18 August 2017

1 reference

18 August 2017

1 reference