(Q34125299)

31 July 2017

Inherited and de novo mutations in sporadic cases of DYT1-dystonia (English)

1 reference

31 July 2017

Lena Elisabeth Hjermind

series ordinal

1

1 reference

PubMed ID

11973627

31 July 2017

Lene Moria Werdelin

series ordinal

2

1 reference

PubMed ID

11973627

31 July 2017

Sven Asger Sørensen

series ordinal

3

1 reference

31 July 2017

1 March 2002

1 reference

European Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

10

1 reference

31 July 2017

3

1 reference

31 July 2017

213-216

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200782

31 July 2017

0 references

cites work

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A genetic study of idiopathic torsion dystonia in the United Kingdom.

21 January 2018

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Clinical and molecular genetics of primary dystonias

21 January 2018

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Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

21 January 2018

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Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200782

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200782

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

21 January 2018

1 reference

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DYT1 mutation in French families with idiopathic torsion dystonia

21 January 2018

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The role of DYT1 in primary torsion dystonia in Europe.

21 January 2018

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Human gene for torsion dystonia located on chromosome 9q32-q34.

21 January 2018

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Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

21 January 2018

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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

21 January 2018

1 reference

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Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

21 January 2018

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Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.

21 January 2018

1 reference

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The DYT1 phenotype and guidelines for diagnostic testing

21 January 2018

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Phenotypic variability of the DYT1 mutation in German dystonia patients

21 January 2018

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7 January 2021

Analysis of the locus D1S80 by amplified fragment length polymorphism technique (AMP-FLP). Frequency distribution in Danes. Intra and inter laboratory reproducibility of the technique

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200782

7 January 2021

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200782

7 January 2021

Frequency of the DYT1 mutation in primary torsion dystonia without family history

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200782

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200782

1 reference

31 July 2017

1 reference

PubMed ID

11973627