(Q38035007)

27 August 2017

Review: genetics and neuropathology of primary pure dystonia (English)

1 reference

27 August 2017

2

J Hardy

1 reference

27 August 2017

4

J L Holton

1 reference

27 August 2017

R Paudel

1

1 reference

PubMed ID

22897341

27 August 2017

T Revesz

series ordinal

3

1 reference

PubMed ID

22897341

27 August 2017

H Houlden

series ordinal

5

1 reference

27 August 2017

1 October 2012

1 reference

Neuropathology and Applied Neurobiology

27 August 2017

1 reference

27 August 2017

38

1 reference

27 August 2017

6

1 reference

27 August 2017

520-534

1 reference

Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients

27 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Do primary adult-onset focal dystonias share aetiological factors?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The pathophysiological basis of dystonias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The diagnosis of dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

21 January 2018

Milestones in dystonia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

EFNS guidelines on diagnosis and treatment of primary dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Human gene for torsion dystonia located on chromosome 9q32-q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Genetics of dystonia: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Functional brain networks in DYT1 dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Impaired sequence learning in carriers of the DYT1 dystonia mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Characterization of human torsinA and its dystonia-associated mutant form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

TorsinA and dystonia: from nuclear envelope to synapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

AAA+ superfamily ATPases: common structure--diverse function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The AAA team: related ATPases with diverse functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

AAA proteins. Lords of the ring

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The role of torsinA in dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Cellular distribution of torsin A and torsin B in normal human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Immunohistochemical localization and distribution of torsinA in normal human and rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Brainstem pathology in DYT1 primary torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

TorsinA in the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Spread of symptoms in idiopathic torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Novel THAP1 sequence variants in primary dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Identification and functional analysis of novel THAP1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Review: properties and assembly mechanisms of ND10, PML bodies, or PODs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Par-4 is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

On the problem of the pathology of spasmodic torticollis in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The behavioural and motor consequences of focal lesions of the basal ganglia in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Neuropathology of lubag (x-linked dystonia parkinsonism).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Understanding XDP through imaging, pathology, and genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Pathology in brainstem regions of individuals with primary dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Pathological report of four patients presenting with cranial dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Meige syndrome: neuropathology of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Widespread τ and amyloid-β pathology many years after a single traumatic brain injury in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Transgenic mouse model of early-onset DYT1 dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The role of genes in causing dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Autosomal recessive, DYT2-like primary torsion dystonia: a new family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Evidence for locus heterogeneity in autosomal dominant torsion dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

21 January 2018

Dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

A novel locus for inherited myoclonus-dystonia on 18p11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2012.01298.X

10.1111/J.1365-2990.2012.01298.X

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference

PubMed ID

22897341