(Q48142613)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

0 references

0 references

5

1 reference

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22 February 2020

Richard Redon

22

1 reference

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22 February 2020

Jean-Charles Lambert

26

1 reference

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22 February 2020

Kilan Le Guennec

10

1 reference

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22 February 2020

Philippe Amouyel

17

1 reference

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22 February 2020

Luc Letenneur

23

1 reference

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22 February 2020

Emmanuelle Génin

25

1 reference

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22 February 2020

20

M Lathrop

1 reference

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22 February 2020

Benjamin Grenier-Boley

6

object named as

B Grenier-Boley

1 reference

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22 February 2020

CNR-MAJ collaborators

29

object named as

CNR-MAJ collaborators

1 reference

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22 February 2020

9

A Rovelet-Lecrux

1 reference

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22 February 2020

Jean-François Dartigues

24

object named as

J-F Dartigues

1 reference

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22 February 2020

author name string

C Charbonnier

2

1 reference

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22 February 2020

D Wallon

3

1 reference

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22 February 2020

O Quenez

4

1 reference

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22 February 2020

S Rousseau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

A-C Richard

8

1 reference

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22 February 2020

D Bacq

11

1 reference

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22 February 2020

J-G Garnier

12

1 reference

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22 February 2020

R Olaso

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1 reference

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22 February 2020

A Boland

14

1 reference

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22 February 2020

V Meyer

15

1 reference

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22 February 2020

J-F Deleuze

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

H M Munter

18

1 reference

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22 February 2020

G Bourque

19

1 reference

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22 February 2020

T Frebourg

21

1 reference

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22 February 2020

D Hannequin

27

1 reference

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22 February 2020

D Campion

28

1 reference

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22 February 2020

G Nicolas

1

1 reference

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22 February 2020

language of work or name

English

0 references

publication date

25 August 2015

1 reference

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22 February 2020

1 reference

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22 February 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

6

1 reference

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22 February 2020

page(s)

831-836

1 reference

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https://scigraph.springernature.com/pub.10.1038/mp.2015.121

22 February 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence for a proximal role in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Diagnostic impact of CSF biomarkers for Alzheimer's disease in a tertiary memory clinic.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Data quality control in genetic case-control association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Second-generation PLINK: rising to the challenge of larger and richer datasets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Coding mutations in SORL1 and Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Rare and low frequency variant stratification in the UK population: description and impact on association tests.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

A polygenic burden of rare disruptive mutations in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2015.121

21 January 2018

Identifiers

DOI

10.1038/MP.2015.121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26303663%20AND%20SRC:MED&resulttype=core&format=json