(Q35199225)

7 August 2017

title

Coding mutations in SORL1 and Alzheimer disease (English)

1 reference

Peter Henry St George-Hyslop

7 August 2017

0 references

Mahdi Ghani

6

0 references

object named as

Peter St George-Hyslop

11

0 references

Richard Mayeux

12

object named as

Richard Mayeux

1 reference

7 August 2017

7

Christiane Reitz

1 reference

7 August 2017

10

Ekaterina Rogaeva

1 reference

7 August 2017

3

Joseph H Lee

1 reference

7 August 2017

5

Christopher Bohm

1 reference

7 August 2017

2

Yalun Zhang

1 reference

7 August 2017

8

Dolly Reyes-Dumeyer

1 reference

7 August 2017

Badri N Vardarajan

1

1 reference

7 August 2017

Rong Cheng

4

1 reference

7 August 2017

Yufeng Shen

9

1 reference

7 August 2017

publication date

1 February 2015

1 reference

7 August 2017

1 reference

7 August 2017

volume

77

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7 August 2017

issue

2

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7 August 2017

page(s)

215-227

1 reference

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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28 July 2018

1 reference

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

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A statistical method for the detection of variants from next-generation resequencing of DNA pools

28 July 2018

1 reference

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Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans

28 July 2018

1 reference

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Detection of nonneutral substitution rates on mammalian phylogenies

28 July 2018

1 reference

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The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

The neuronal sortilin-related receptor gene SORL1 and late-onset Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Association between SORL1 and Alzheimer's disease in a genome-wide study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Characterization of the VPS10 domain of SorLA/LR11 as binding site for the neuropeptide HA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

Score tests for association between traits and haplotypes when linkage phase is ambiguous

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4367199

SorLA signaling by regulated intramembrane proteolysis

28 July 2018

1 reference

The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort

21 January 2018

1 reference

SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese.

21 January 2018

1 reference

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

21 January 2018

1 reference

PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals

21 January 2018

1 reference

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing

21 January 2018

1 reference

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

21 January 2018

1 reference

Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2.

21 January 2018

1 reference

High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24305

1 reference

7 August 2017

1 reference

7 August 2017

1 reference