(Q40733370)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

XPR1 mutations are a rare cause of primary familial brain calcification (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Uriel López-Sánchez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Gabrielle Rudolf

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jean-Luc Battini

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Marc Sitbon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Gael Nicolas

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

11

Dominique Campion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Donatella Giovannini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Anne-Claire Richard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jawida Touhami

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Ludovic N'Guyen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Anne Thibault-Stoll

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Thierry Frebourg

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Didier Hannequin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

publication date

26 May 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

263

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

1559-1564

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-016-8166-4

3 April 2020

exact match

0 references

cites work

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: possible role in G protein-coupled signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Genetics and molecular biology of brain calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Optimization of tumor xenograft dissociation for the profiling of cell surface markers and nutrient transporters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Scale for the assessment and rating of ataxia: development of a new clinical scale

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Xpr1 is an atypical G-protein-coupled receptor that mediates xenotropic and polytropic murine retrovirus neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-016-8166-4

Improved retroviral vectors for gene transfer and expression

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27230854

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-016-8166-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27230854%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference