(Q44634150)

4 December 2017

title

Candidate gene studies in focal dystonia (English)

1 reference

4 December 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

9

Ziegler A

1 reference

4 December 2017

7

Oertel WH

1 reference

4 December 2017

3

I. R. König

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

Sophie Tezenas du Montcel

25 March 2024

4

object named as

S. Tezenas du Montcel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

8

A. Brice

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

10

T. Gasser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

author name string

Tezenas du Montcel S

4

1 reference

4 December 2017

D. Sibbing

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

F. Asmus

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

M. Vidailhet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

S. Sangla

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

O. Bandmann

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14581671

25 March 2024

language of work or name

English

0 references

publication date

1 October 2003

1 reference

4 December 2017

28 October 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14581671

full work available at URL

25 March 2024

https://www.neurology.org/doi/pdfdirect/10.1212/01.WNL.0000090560.20641.AB

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

25 March 2024

1 reference

4 December 2017

volume

61

1 reference

4 December 2017

issue

8

1 reference

4 December 2017

page(s)

1097-1101

1 reference

Phenotypic variability of the DYT1 mutation in German dystonia patients

4 December 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm

25 March 2024

2

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

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

25 March 2024

3

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

25 March 2024

4

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene

25 March 2024

5

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

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

25 March 2024

7

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Aplastic anemia in a patient receiving felbamate for complex partial seizures

25 March 2024

8

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Epidemiology and outcome of cervical dystonia (spasmodic torticollis) in Rochester, Minnesota

25 March 2024

9

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Human leukocyte antigen in torticollis and other idiopathic dystonic syndromes

25 March 2024

11

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Dystonia in homocystinuria

25 March 2024

12

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Homocystinuria and dystonia

25 March 2024

14

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Elevated plasma levels of homocysteine in dystonia

25 March 2024

15

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia

25 March 2024

16

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1

25 March 2024

17

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels

25 March 2024

19

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

25 March 2024

20

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations

25 March 2024

21

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Molecular Biology and Evolution

25 March 2024

22

12

921

1995

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

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

25 March 2024

24

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

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

25 March 2024

25

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Exclusion of the DYT1 locus in familial torticollis

25 March 2024

26

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Attention-deficit hyperactivity disorder and the gene for the dopamine D5 receptor.

25 March 2024

27

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Genetic linkage analysis in primary torsion dystonia

25 March 2024

28

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Hardy-Weinberg testing for HLA class II (DRB1, DQA1, DQB1, AND DPB1) loci in 26 human ethnic groups

25 March 2024

29

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

The search for HLA-matched donors: a summary of HLA-A*, -B*, -DRB1/3/4/5* alleles and their association with serologically defined HLA-A, -B, -DR antigens

25 March 2024

30

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

Genetic association studies: genes in search of diseases.

25 March 2024

31

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000090560.20641.AB

25 March 2024

Identifiers

1 reference

release_owkzpmtpcfd65lbmshrb2bug6u

4 December 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/owkzpmtpcfd65lbmshrb2bug6u

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference