(Q37738133)

22 August 2017

1 reference

title

Genetics of primary torsion dystonia (English)

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22 August 2017

2

Christine Klein

1 reference

22 August 2017

Norbert Brüggemann

1

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22 August 2017

publication date

1 May 2010

1 reference

Current Neurology and Neuroscience Reports

22 August 2017

published in

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22 August 2017

volume

10

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22 August 2017

issue

3

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22 August 2017

page(s)

199-206

1 reference

https://scigraph.springernature.com/pub.10.1007/s11910-010-0107-5

22 August 2017

exact match

0 references

cites work

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-010-0107-5

Candidate gene studies in focal dystonia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-010-0107-5

GIGYF2 variants are not associated with Parkinson's disease in Italy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-010-0107-5

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

21 January 2018

1 reference

12 December 2020

The pathophysiological basis of dystonias.

1 reference

12 December 2020

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

1 reference

12 December 2020

DYT16: a new twist to familial dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Complicated recessive dystonia parkinsonism syndromes

1 reference

12 December 2020

Brainstem pathology in DYT1 primary torsion dystonia

1 reference

12 December 2020

A genetic study of idiopathic focal dystonias

1 reference

12 December 2020

Torsin A haplotype predisposes to idiopathic dystonia

1 reference

12 December 2020

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

1 reference

12 December 2020

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

1 reference

12 December 2020

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

1 reference

12 December 2020

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.

1 reference

12 December 2020

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

1 reference

12 December 2020

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

1 reference

12 December 2020

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

1 reference

12 December 2020

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

1 reference

12 December 2020

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

1 reference

12 December 2020

Etiology of musician's dystonia: familial or environmental?

1 reference

12 December 2020

A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

1 reference

12 December 2020

Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

1 reference

12 December 2020

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

1 reference

12 December 2020

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

1 reference

12 December 2020

Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.

1 reference

12 December 2020

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

1 reference

12 December 2020

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

1 reference

12 December 2020

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

1 reference

12 December 2020

Mutation screening of the DYT6/THAP1 gene in Italy

1 reference

12 December 2020

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

1 reference

12 December 2020

10.1007/S11910-010-0107-5

Identifiers

DOI

1 reference

22 August 2017

1 reference