SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia (Q34378391)

1 August 2017

title

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia (English)

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basal ganglia calcification

1 August 2017

main subject

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12

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1 August 2017

Monica Sanchez-Contreras

object named as

Monica Y Sanchez-Contreras

3

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Jon Stoessl

object named as

A Jon Stoessl

8

0 references

Zbigniew K Wszolek

14

object named as

Zbigniew K Wszolek

1 reference

1 August 2017

15

Rosa Rademakers

1 reference

1 August 2017

13

Owen A Ross

1 reference

1 August 2017

6

Donald B Calne

1 reference

1 August 2017

9

Judith E Allanson

1 reference

1 August 2017

2

Audrey J Strongosky

1 reference

1 August 2017

1

Matt Baker

1 reference

1 August 2017

10

Daniel F Broderick

1 reference

1 August 2017

Shan Yang

4

1 reference

1 August 2017

Will Ferguson

5

1 reference

1 August 2017

Susan Calne

7

1 reference

1 August 2017

Michael L Hutton

11

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1 August 2017

publication date

18 October 2013

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1 August 2017

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1 August 2017

volume

15

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1 August 2017

issue

1

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1 August 2017

page(s)

23-30

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Overview of primary monogenic dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

The monogenic primary dystonias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Autosomal dominant dystonia-plus with cerebral calcifications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Severe vascular disturbance in a case of familial brain calcinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Heredofamilial brain calcinosis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

The significance of the incidental finding of basal ganglia calcification on computed tomography

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

What is the psychiatric significance of bilateral basal ganglia mineralization?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3969760

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-013-0378-5

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-013-0378-5

Dystonia and calcification of the basal ganglia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24135862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24135862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24135862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-013-0378-5

1 reference

1 August 2017

1 reference

1 August 2017

1 reference