(Q37607672)

21 August 2017

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome (English)

1 reference

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

21 August 2017

1 reference

7

Casper Shyr

0 references

Gabriella A Horvath

Gabriella Horvath

8

0 references

Shelin Adam

Shelin Adam

4

0 references

Jan M Friedman

Jan M Friedman

12

0 references

FORGE Canada

13

FORGE Canada Consortium

1 reference

21 August 2017

Michelle K Demos

1

1 reference

21 August 2017

Clara Dm van Karnebeek

2

1 reference

21 August 2017

Colin Jd Ross

3

1 reference

21 August 2017

Yaoqing Shen

5

1 reference

21 August 2017

Shing Hei Zhan

6

1 reference

21 August 2017

Casper Shyr

7

1 reference

21 August 2017

Mohnish Suri

9

1 reference

21 August 2017

Alan Fryer

10

1 reference

21 August 2017

Steven Jm Jones

11

1 reference

21 August 2017

28 January 2014

1 reference

Orphanet Journal of Rare Diseases

21 August 2017

1 reference

21 August 2017

9

1 reference

21 August 2017

15

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-9-15

21 August 2017

0 references

cites work

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Mutations in EZH2 cause Weaver syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

The functional spectrum of low-frequency coding variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Integrative genomics viewer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Distribution of the Na,K-ATPase alpha subunit in the rat spiral ganglion and organ of corti.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

dbSNP: the NCBI database of genetic variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Na(+),K (+)-ATPase as a docking station: protein-protein complexes of the Na(+),K (+)-ATPase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3937150

1 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-15

Clinical spectrum of disease associated with ATP1A3 mutations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24468074

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-15

1 reference

Dimensions Publication ID

21 August 2017

0 references

1 reference

21 August 2017

1 reference