(Q34985270)

5 August 2017

title

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia (English)

1 reference

genetic predisposition to disease

5 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

author

Rachel Saunders-Pullman

6

object named as

Rachel Saunders-Pullman

1 reference

5 August 2017

7

Deborah Raymond

1 reference

5 August 2017

11

Laurie J Ozelius

1 reference

5 August 2017

10

Susan B Bressman

1 reference

5 August 2017

2

Ramon A. Franco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

author name string

Nutan Sharma

1

1 reference

5 August 2017

Tania Fuchs

5

1 reference

5 August 2017

Andrew Blitzer

9

1 reference

5 August 2017

John K. Kuster

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

Adele A. Mitchell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

Mitchell F. Brin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

Susan B. Bressman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

Laurie J. Ozelius

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

13 June 2024

language of work or name

English

0 references

publication date

1 October 2010

1 reference

5 August 2017

15 October 2010

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20669276

full work available at URL

13 June 2024

https://europepmc.org/articles/pmc3095887?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20669276/?tool=EBI

13 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20669276/pdf/?tool=EBI

13 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://europepmc.org/articles/PMC3095887

13 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://europepmc.org/articles/PMC3095887?pdf=render

13 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://doi.org/10.1002/mds.23225

13 June 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20669276

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23225

13 June 2024

1 reference

https://api.crossref.org/works/10.1002/MDS.23225

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23225/fullpdf

13 June 2024

1 reference

https://api.crossref.org/works/10.1002/MDS.23225

13 June 2024

1 reference

5 August 2017

volume

25

1 reference

5 August 2017

issue

13

1 reference

5 August 2017

page(s)

2183-2187

1 reference

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

5 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=3095887

PLINK: a tool set for whole-genome association and population-based linkage analyses

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Multiple regions of alpha-synuclein are associated with Parkinson's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

The amyloid precursor protein locus and very-late-onset Alzheimer disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

A prevalence study of primary dystonia in eight European countries

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Blepharospasm: a review of 264 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Epidemiology of focal and generalized dystonia in Rochester, Minnesota

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Idiopathic cervical dystonia: clinical characteristics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

A genetic study of idiopathic focal dystonias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Candidate gene studies in focal dystonia

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.23225

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

The p.Asp216His TOR1A allele effect is not found in the French population

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Adult onset familial cervical dystonia: report of a family including monozygotic twins

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Writers' cramp-a focal dystonia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Torsin A haplotype predisposes to idiopathic dystonia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3095887

Clinical features of Meige's disease (idiopathic orofacial dystonia): a report of 17 cases

26 October 2018

1 reference

12 December 2020

Blepharospasm and orofacial-cervical dystonia: clinical and pharmacological findings in 100 patients

1 reference

12 December 2020

Spontaneous remissions in spasmodic torticollis

1 reference

12 December 2020

Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia

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

Classification of dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

Tolcapone: COMT inhibition for the treatment of Parkinson's disease

https://api.crossref.org/works/10.1002/MDS.23225

29

1 reference

13 June 2024

Identifiers

DOI

10.1002/MDS.23225

1 reference

5 August 2017

1 reference

5 August 2017

1 reference