(Q34388255)

1 August 2017

title

Search for a founder mutation in idiopathic focal dystonia from Northern Germany (English)

1 reference

1 August 2017

0 references

1 reference

Xandra O. Breakefield

4

object named as

X O Breakefield

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1 August 2017

2

L J Ozelius

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1 August 2017

C Klein

1

1 reference

1 August 2017

J Hagenah

3

1 reference

1 August 2017

N J Risch

5

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1 August 2017

P Vieregge

6

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1 August 2017

language of work or name

English

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publication date

1 December 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

63

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1 August 2017

issue

6

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1 August 2017

page(s)

1777-1782

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Clinical and molecular genetics of primary dystonias

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=1377650

Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large 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=1377650

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

Idiopathic, myoclonic and Dopa-responsive 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=1377650

Mutation in the alpha-synuclein gene identified in families with Parkinson's 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=1377650

Sex prevalence of focal 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=1377650

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

A comparison of linkage disequilibrium measures for fine-scale mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish 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=1377650

Measuring the strength of associations between HLA antigens and diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

A genetic study of idiopathic focal 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=1377650

Complex patterns of linkage disequilibrium in the Huntington disease region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377650

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

27 October 2018

1 reference

12 December 2020

Exclusion of the DYT1 locus in familial torticollis

1 reference

12 December 2020

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

1 reference

12 December 2020

Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe

1 reference

12 December 2020

1 reference

12 December 2020

Genetic complexity and Parkinson's disease

1 reference

12 December 2020

Spontaneous remissions in spasmodic torticollis

1 reference

12 December 2020

[18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect]

1 reference

12 December 2020

Identifiers

DOI

10.1086/302143

1 reference

release_sugyxsxywzdonkvgxjz7nr6bdq

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sugyxsxywzdonkvgxjz7nr6bdq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1377650

1 reference

1 August 2017

1 reference