(Q37006184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Exome sequencing to identify de novo mutations in sporadic ALS trios (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

1 March 2020

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Kelly L Williams

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jennifer A. Fifita

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ian P Blair

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

15

Oliver D King

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1

Alessandra Chesi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

9

Meraida Polak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

13

Nicholas J Maragakis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

20

Aaron D Gitler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

6

Alya R Raphael

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Brett T Staahl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ana Jovičić

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Maria Fasolino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Tomohiro Yamazaki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Laura Elias

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Crystal Kelly

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Garth A Nicholson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Robin Reed

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Gerald R Crabtree

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jonathan D Glass

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

26 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

number of pages

5

1 reference

inferred from page(s)

published in

Nature Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

851-855

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

1 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3709464/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

De Novo Gene Disruptions in Children on the Autistic Spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Patterns and rates of exonic de novo mutations in autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A yeast functional screen predicts new candidate ALS disease genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

RNA-binding proteins with prion-like domains in ALS and FTLD-U.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A framework for variation discovery and genotyping using next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Exome sequencing reveals VCP mutations as a cause of familial ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

ATP is required for interactions between UAP56 and two conserved mRNA export proteins, Aly and CIP29, to assemble the TREX complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations of optineurin in amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Prion-like disorders: blurring the divide between transmissibility and infectivity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A calcium-dependent switch in a CREST-BRG1 complex regulates activity-dependent gene expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Neurodevelopmental and neurodegenerative diseases - is there a pathophysiological link? Attention-deficit/hyperactivity disorder and amyotrophic lateral sclerosis as examples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Regulation of dendritic development by neuron-specific chromatin remodeling complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Sodium valproate exerts neuroprotective effects in vivo through CREB-binding protein-dependent mechanisms but does not improve survival in an amyotrophic lateral sclerosis mouse model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Dendrite development regulated by CREST, a calcium-regulated transcriptional activator

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Identifying biological themes within lists of genes with EASE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Regulation of cAMP-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SRCAP.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Drug screening for ALS using patient-specific induced pluripotent stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Essential role of type I(alpha) phosphatidylinositol 4-phosphate 5-kinase in neurite remodeling

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

A de novo paradigm for mental retardation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Phase 2 study of sodium phenylbutyrate in ALS.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Neurotrimin mediates bifunctional effects on neurite outgrowth via homophilic and heterophilic interactions.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

?True? sporadic ALS associated with a novel SOD-1 mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3709464

Increased exonic de novo mutation rate in individuals with schizophrenia

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23708140

12 December 2020

inferred from PubMed ID database lookup

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.3412

7 January 2021

inferred from DOI database lookup

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.3412

7 January 2021

inferred from DOI database lookup

Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNN.3412

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NN.3412

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23708140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23708140%20AND%20SRC:MED&resulttype=core&format=json