Genetics of amyotrophic lateral sclerosis: an update. (Q37153922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23941283%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

review article

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title

Genetics of amyotrophic lateral sclerosis: an update (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23941283%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

7 March 2020

main subject

1 reference

25 April 2019

1

1 reference

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7 March 2020

author name string

Pavani Sayana

series ordinal

2

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7 March 2020

Xiaojie Zhang

series ordinal

3

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7 March 2020

Weidong Le

series ordinal

4

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7 March 2020

publication date

13 August 2013

2 references

25 April 2019

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Molecular Neurodegeneration

7 March 2020

published in

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25 April 2019

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7 March 2020

volume

8

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7 March 2020

page(s)

28

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Creative Commons Attribution 2.0 Generic

7 March 2020

copyright license

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on focus list of Wikimedia project

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copyright status

copyrighted

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ScienceSource

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cites work

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6 September 2017

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6 September 2017

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6 September 2017

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Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

6 September 2017

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6 September 2017

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6 September 2017

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Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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14 September 2017

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An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology

14 September 2017

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14 September 2017

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

14 September 2017

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Correlation between severity and SMN protein level in spinal muscular atrophy

29 September 2017

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The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases

29 September 2017

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TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

27 June 2018

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The use of transgenic mouse models of amyotrophic lateral sclerosis in preclinical drug studies

27 June 2018

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Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

27 June 2018

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Increased expression of valosin-containing protein in the skin of patients with amyotrophic lateral sclerosis

3 September 2018

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Optineurin in Huntington's disease intranuclear inclusions

3 September 2018

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Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology.

3 September 2018

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A protein complex that regulates PtdIns(3,5)P2 levels

3 September 2018

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Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Expression of vascular endothelial growth factor and its receptors in the central nervous system in amyotrophic lateral sclerosis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

A novel candidate region for ALS on chromosome 14q11.2.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Mutant dynactin in motor neuron disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3766231

TDP-43 physically interacts with amyotrophic lateral sclerosis-linked mutant CuZn superoxide dismutase

3 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-8-28

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-8-28

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-8-28

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-8-28

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1326-8-28

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

21 January 2018

1 reference

12 December 2020

Peripherin partially localizes in Bunina bodies in amyotrophic lateral sclerosis

1 reference

12 December 2020

ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth

1 reference

12 December 2020

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

12 December 2020

Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)

1 reference

12 December 2020

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

12 December 2020

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

1 reference

12 December 2020

Paraoxonase cluster polymorphisms are associated with sporadic ALS

1 reference

12 December 2020

Slower disease progression and prolonged survival in contemporary patients with amyotrophic lateral sclerosis: is the natural history of amyotrophic lateral sclerosis changing?

1 reference

12 December 2020

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

1 reference

12 December 2020

A role for ubiquilin 2 mutations in neurodegeneration

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1326-8-28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23941283%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 March 2020

1026301153

0 references

Fatcat ID

release_z6payjgue5eojmqpcgtm5waboq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/z6payjgue5eojmqpcgtm5waboq

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23941283%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

23941283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23941283%20AND%20SRC:MED&resulttype=core&format=json