(Q42541963)

2 November 2017

Novel compound heterozygous mutations in PRKRA cause pure dystonia (English)

1 reference

2 November 2017

1 reference

Patricia de Carvalho Aguiar

1

1 reference

2 November 2017

Vanderci Borges

2

1 reference

2 November 2017

Henrique Ballalai Ferraz

3

1 reference

2 November 2017

Laurie Jean Ozelius

4

1 reference

2 November 2017

language of work or name

English

0 references

publication date

4 March 2015

1 reference

2 November 2017

1 reference

2 November 2017

30

1 reference

2 November 2017

6

1 reference

2 November 2017

877-878

1 reference

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4439278

A general framework for estimating the relative pathogenicity of human genetic variants

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4439278

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4439278

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4439278

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

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25737287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25737287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MDS.26175

1 reference

2 November 2017

1 reference

2 November 2017

PubMed publication ID

25737287

1 reference