A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia (Q34215715)

31 July 2017

0 references

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia (English)

1 reference

basal ganglia calcification

31 July 2017

0 references

1 reference

based on heuristic

inferred from title

author

Marie-Hélène Aubriot-Lorton

7

object named as

Marie-Hélène Aubriot-Lorton

0 references

Didier Hannequin

15

object named as

Didier Hannequin

1 reference

31 July 2017

14

Dominique Campion

1 reference

31 July 2017

Christel Thauvin-Robinet

3

object named as

Christel Thauvin-Robinet

1 reference

31 July 2017

Gaël Nicolas

1

1 reference

31 July 2017

Agnès Jacquin

2

1 reference

31 July 2017

Anne Rovelet-Lecrux

4

1 reference

31 July 2017

Olivier Rouaud

5

1 reference

31 July 2017

Cyril Pottier

6

1 reference

31 July 2017

Stéphane Rousseau

8

1 reference

31 July 2017

David Wallon

9

1 reference

31 July 2017

Christian Duvillard

10

1 reference

31 July 2017

Yannick Béjot

11

1 reference

31 July 2017

Thierry Frébourg

12

1 reference

31 July 2017

Maurice Giroud

13

1 reference

31 July 2017

12 February 2014

1 reference

European Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

22

1 reference

31 July 2017

1236-1238

1 reference

31 July 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.9

31 July 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

Craniocervical dystonia: clinical and pathophysiological features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

Structures of a platelet-derived growth factor/propeptide complex and a platelet-derived growth factor/receptor complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

Autosomal dominant dystonia-plus with cerebral calcifications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169546

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

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.9

The challenging interpretation of genetic and neuroimaging features in basal ganglia calcification.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.9

Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24518837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.9

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference