(Q36638834)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

4 March 2020

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Avi Orr-Urtreger

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

4

Bryan J Traynor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Orly Goldstein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Omri Nayshool

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Beatrice Nefussy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Mali Gana-Weisz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Vivian E Drory

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

6 January 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

446-453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

4 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

State of play in amyotrophic lateral sclerosis genetics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

North African Jewish and non-Jewish populations form distinctive, orthogonal clusters

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Toward an integrative view of Optineurin functions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Mutations of optineurin in amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Earlier onset and shorter survival of amyotrophic lateral sclerosis in Jewish patients of North African origin. A clue to modifying genetic factors?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

The distinct genetic pattern of ALS in Turkey and novel mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

SnapShot: Genetics of ALS and FTD.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Optineurin suppression causes neuronal cell death via NF-κB pathway.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Prevalence and patterns of cognitive impairment in sporadic ALS.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in theOPTNgene

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

Proposed criteria for familial amyotrophic lateral sclerosis

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4773945

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

4 December 2018

1 reference

12 December 2020

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

12 December 2020

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

1 reference

12 December 2020

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

1 reference

12 December 2020

10.1212/WNL.0000000000002334

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740678%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference