(Q35179513)

25773295

7 August 2017

title

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS. (English)

1 reference

25773295

amyotrophic lateral sclerosis

7 August 2017

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

4

Elaine R Mardis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Karyn Meltz Steinberg

series ordinal

1

object named as

Karyn Meltz Steinberg

1 reference

6 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

Daniel C Koboldt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Roger Pamphlett

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

language of work or name

English

0 references

publication date

16 March 2015

1 reference

7 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

9124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

6 June 2020

copyright license

start time

16 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/srep09124

0 references

cites work

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1 reference

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De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

13 July 2018

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State of play in amyotrophic lateral sclerosis genetics

13 July 2018

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13 July 2018

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Uptake of inorganic mercury by human locus ceruleus and corticomotor neurons: implications for amyotrophic lateral sclerosis

13 July 2018

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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

13 July 2018

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13 July 2018

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13 July 2018

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De novo mutations in ataxin-2 gene and ALS risk

13 July 2018

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Mutations in COQ2 in familial and sporadic multiple-system atrophy

13 July 2018

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Exome sequencing to identify de novo mutations in sporadic ALS trios

13 July 2018

1 reference

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Mechanisms, models and biomarkers in amyotrophic lateral sclerosis

13 July 2018

1 reference

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Homozygosity analysis in amyotrophic lateral sclerosis

13 July 2018

1 reference

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Family-based association tests for sequence data, and comparisons with population-based association tests

13 July 2018

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Is exposure to cyanobacteria an environmental risk factor for amyotrophic lateral sclerosis and other neurodegenerative diseases?

13 July 2018

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

13 July 2018

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Small Molecule Induction of Human Umbilical Stem Cells into MBP-positive Oligodendrocytes in a Defined Three-Dimensional Environment

13 July 2018

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

13 July 2018

1 reference

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

13 July 2018

1 reference

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Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

13 July 2018

1 reference

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Disruption of axonal transport in motor neuron diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-β production by altering Nicastrin maturation and intracellular localization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms

13 July 2018

1 reference

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Loss of muscarinic M1 receptor exacerbates Alzheimer's disease-like pathology and cognitive decline

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Novel mechanism of increased Ca2+ release following oxidative stress in neuronal cells involves type 2 inositol-1,4,5-trisphosphate receptors.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Deletion of M1 muscarinic acetylcholine receptors increases amyloid pathology in vitro and in vivo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Endoplasmic reticulum stress and induction of the unfolded protein response in human sporadic amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

ABCA2 deficiency results in abnormal sphingolipid metabolism in mouse brain

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Alterations in G(1) to S phase cell-cycle regulators during amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Cholinergic receptor alterations in the brain stem of spinal cord injured rats.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Over-expression of N-type calcium channels in cortical neurons from a mouse model of Amyotrophic Lateral Sclerosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Neuronal overexpression of IP₃ receptor 2 is detrimental in mutant SOD1 mice.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Genetic susceptibility to environmental toxicants in ALS.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360641

A novelTARDBPinsertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25773295

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Global loss of Na,K-ATPase and its nitric oxide-mediated regulation in a transgenic mouse model of amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25773295

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SREP09124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

25773295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25773295%20AND%20SRC:MED&resulttype=core&format=json