(Q34945003)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

22 February 2020

main subject

0 references

author

Alison Goate

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Robi D Mitra

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

6

Timothy M Miller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

10

Robert H Baloh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Janet Cady

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Peggy Allred

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Taha Bali

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Alan Pestronk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

John Ravits

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Matthew B Harms

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

27 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

100-113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

Prevalence of amyotrophic lateral sclerosis - United States, 2010-2011.

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Guidelines for investigating causality of sequence variants in human disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

State of play in amyotrophic lateral sclerosis genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Clinical neurogenetics: amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

An integrated map of genetic variation from 1,092 human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Extensive genetics of ALS: a population-based study in Italy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

A yeast functional screen predicts new candidate ALS disease genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Integrative genomics viewer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

High-throughput discovery of rare insertions and deletions in large cohorts

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

An estimate of amyotrophic lateral sclerosis heritability using twin data.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Quantification of rare allelic variants from pooled genomic DNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Genetics of familial and sporadic amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. II.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. I.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry).

8 July 2018

1 reference

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

21 January 2018

1 reference

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

21 January 2018

1 reference

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

21 January 2018

1 reference

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4293318

Proposed criteria for familial amyotrophic lateral sclerosis

26 October 2018

1 reference

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

21 January 2018

1 reference

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25382069

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25382069

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.24306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25382069%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

25382069

1 reference