(Q35788565)

10 August 2017

0 references

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia (English)

1 reference

10 August 2017

1 reference

Laurie J Ozelius

1 reference

10 August 2017

Susan B Bressman

1 reference

10 August 2017

Neil J Risch

1 reference

10 August 2017

Geetha Senthil

series ordinal

1 reference

10 August 2017

language of work or name

English

0 references

publication date

27 April 2007

1 reference

American Journal of Human Genetics

10 August 2017

published in

1 reference

10 August 2017

1 reference

10 August 2017

1 reference

10 August 2017

page(s)

1188-1193

1 reference

Motor deficits and hyperactivity in Dyt1 knockdown mice.

10 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=1867106

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

TorsinA in the nuclear envelope

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

The DYT1 phenotype and guidelines for diagnostic testing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

The diagnosis of dystonia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Mutations in DYT1: extension of the phenotypic and mutational spectrum

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Candidate gene studies in focal dystonia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Torsin A haplotype predisposes to idiopathic dystonia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867106

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17503336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lack of association with TorsinA haplotype in German patients with sporadic dystonia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17503336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/518427

1 reference

10 August 2017

1 reference

10 August 2017

1 reference