Genetics of dystonia: an overview (Q37082079)

18 August 2017

1 reference

title

Genetics of dystonia: an overview (English)

1 reference

18 August 2017

Susan B Bressman

1

1 reference

18 August 2017

publication date

1 January 2007

1 reference

Parkinsonism and Related Disorders

18 August 2017

published in

1 reference

18 August 2017

volume

13 Suppl 3

1 reference

18 August 2017

page(s)

S347-55

1 reference

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

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Brainstem pathology in DYT1 primary torsion dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Transgenic mouse model of early-onset DYT1 dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

The AAA protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Motor deficits and hyperactivity in Dyt1 knockdown mice.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Candidate gene studies in focal dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Phenotypic variability of the DYT1 mutation in German dystonia patients

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

The entity of young onset primary cervical dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Impaired sequence learning in carriers of the DYT1 dystonia mutation

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Diagnostic criteria for dystonia in DYT1 families

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Functional brain networks in DYT1 dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Microstructural white matter changes in carriers of the DYT1 gene mutation

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

A genetic study of idiopathic focal dystonias

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Exclusion of the DYT1 locus in familial torticollis

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Torsin A haplotype predisposes to idiopathic dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

GCH1 mutation in a patient with adult-onset oromandibular dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Dopa-responsive dystonia simulating cerebral palsy

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Molecular genetics of dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Parkin disease: a phenotypic study of a large case series

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

1 reference

7 January 2021

Hereditary essential myoclonus

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Refinement of the DYT15 locus in myoclonus dystonia

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

Mutations in the Na /K -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

1 reference

https://api.crossref.org/works/10.1016/S1353-8020(08)70029-4

7 January 2021

10.1016/S1353-8020(08)70029-4

Identifiers

DOI

1 reference

18 August 2017

1 reference