(Q37088920)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

review article

1 reference

title

The pathophysiological basis of dystonias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

David G. Standaert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Xandra O. Breakefield

1

object named as

Xandra O Breakefield

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

5

Phyllis I Hanson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

Anne J Blood

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Mark Hallett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

language of work or name

English

0 references

publication date

1 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Neuroscience

3 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

222-234

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nrn2337

3 January 2020

exact match

0 references

cites work

Delayed-onset dystonia due to perinatal or early childhood asphyxia

1 reference

The DYT1 phenotype and guidelines for diagnostic testing

21 January 2018

1 reference

Learning-based animal models: task-specific focal hand dystonia

21 January 2018

1 reference

Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.

21 January 2018

1 reference

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

21 January 2018

1 reference

Deficient activation of the motor cortical network in patients with writer's cramp.

21 January 2018

1 reference

Abnormal cortical motor excitability in dystonia.

21 January 2018

1 reference

“Motor circuit” gray matter changes in idiopathic cervical dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

31 March 2020

1 reference

The diagnosis of dystonia

31 March 2020

1 reference

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

31 March 2020

1 reference

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature

31 March 2020

1 reference

Rapid-onset dystonia-parkinsonism

31 March 2020

1 reference

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

31 March 2020

1 reference

Re-emergence of striatal cholinergic interneurons in movement disorders

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Brainstem pathology in DYT1 primary torsion dystonia

31 March 2020

1 reference

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

31 March 2020

1 reference

Developmental expression of rat torsinA transcript and protein.

31 March 2020

1 reference

Developmental patterns of torsinA and torsinB expression

31 March 2020

1 reference

TorsinA expression is detectable in human infants as young as 4 weeks old.

31 March 2020

1 reference

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

31 March 2020

1 reference

AAA+ proteins: have engine, will work

31 March 2020

1 reference

TorsinA in the nuclear envelope

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Torsin-mediated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Molecular defects of the dystonia-causing torsinA mutation

31 March 2020

1 reference

Dystonia-associated forms of torsinA are deficient in ATPase activity

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Hereditary progressive dystonia with marked diurnal fluctuation

31 March 2020

1 reference

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

31 March 2020

1 reference

Structural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory protein

31 March 2020

1 reference

Tetrahydrobiopterin in Striatum: Localization in Dopamine Nerve Terminals and Role in Catecholamine Synthesis

31 March 2020

1 reference

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

31 March 2020

1 reference

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism

31 March 2020

1 reference

Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.

31 March 2020

1 reference

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

31 March 2020

1 reference

Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.

31 March 2020

1 reference

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

31 March 2020

1 reference

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

31 March 2020

1 reference

Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.

31 March 2020

1 reference

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan

31 March 2020

1 reference

Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.

31 March 2020

1 reference

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

31 March 2020

1 reference

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

31 March 2020

1 reference

Pathomechanisms in channelopathies of skeletal muscle and brain

31 March 2020

1 reference

Animal models of focal dystonia

31 March 2020

1 reference

Animal models for drug discovery in dystonia

31 March 2020

1 reference

A Drosophila model of early onset torsion dystonia suggests impairment in TGF-beta signaling

31 March 2020

1 reference

Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration

31 March 2020

1 reference

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

31 March 2020

1 reference

Transgenic mouse model of early-onset DYT1 dystonia

31 March 2020

1 reference

Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.

31 March 2020

1 reference

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

31 March 2020

1 reference

Dopamine release is impaired in a mouse model of DYT1 dystonia

31 March 2020

1 reference

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

31 March 2020

1 reference

Impaired sequence learning in carriers of the DYT1 dystonia mutation

31 March 2020

1 reference

Motor deficits and hyperactivity in cerebral cortex-specific Dyt1 conditional knockout mice

31 March 2020

1 reference

Motor deficits and hyperactivity in Dyt1 knockdown mice.

31 March 2020

1 reference

The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency

31 March 2020

1 reference

Deficiency in Na,K-ATPase alpha isoform genes alters spatial learning, motor activity, and anxiety in mice

31 March 2020

1 reference

The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

31 March 2020

1 reference

Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport

31 March 2020

1 reference

A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus

31 March 2020

1 reference

The pathophysiology of primary dystonia.

31 March 2020

1 reference

Effects of intrastriatal injections of glutamate receptor antagonists on the severity of paroxysmal dystonia in the dtsz mutant.

31 March 2020

1 reference

Caytaxin deficiency disrupts signaling pathways in cerebellar cortex

31 March 2020

1 reference

Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels

31 March 2020

1 reference

Do primary adult-onset focal dystonias share aetiological factors?

31 March 2020

1 reference

Decreased [18F]spiperone binding in putamen in idiopathic focal dystonia

31 March 2020

1 reference

Striatal dopaminergic system in dopa-responsive dystonia: a multi-tracer PET study shows increased D2 receptors

31 March 2020

1 reference

Functional brain networks in DYT1 dystonia.

31 March 2020

1 reference

Overactive prefrontal and underactive motor cortical areas in idiopathic dystonia

31 March 2020

1 reference

31 March 2020

1 reference

Basal ganglia activity remains elevated after movement in focal hand dystonia

31 March 2020

1 reference

Brain cortical activation during guitar-induced hand dystonia studied by functional MRI.

31 March 2020

1 reference

Primate models of movement disorders of basal ganglia origin

31 March 2020

1 reference

Microstructural white matter changes in carriers of the DYT1 gene mutation

31 March 2020

1 reference

Diffusion tensor imaging in primary cervical dystonia

31 March 2020

1 reference

White matter abnormalities in dystonia normalize after botulinum toxin treatment

31 March 2020

1 reference

Changes in brain anatomy in focal hand dystonia

31 March 2020

1 reference

Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp

31 March 2020

1 reference

Bilateral grey-matter increase in the putamen in primary blepharospasm

31 March 2020

1 reference

Voxel based morphometry reveals specific gray matter changes in primary dystonia.

31 March 2020

1 reference

Task-specific hand dystonia: can too much plasticity be bad for you?

31 March 2020

1 reference

The two sides of associative plasticity in writer's cramp.

31 March 2020

1 reference

Abnormal somatosensory homunculus in dystonia of the hand

31 March 2020

1 reference

Human brain mapping in dystonia reveals both endophenotypic traits and adaptive reorganization.

31 March 2020

1 reference

Reversible reorganisation of the motor cortical representation of the hand in cervical dystonia.

31 March 2020

1 reference

Selective impairment of hand mental rotation in patients with focal hand dystonia.

31 March 2020

1 reference

Abnormalities of spatial and temporal sensory discrimination in writer's cramp

31 March 2020

1 reference

Alteration of sensorimotor integration in musician's cramp: impaired focusing of proprioception

31 March 2020

1 reference

Cortical and spinal abnormalities in psychogenic dystonia.

31 March 2020

1 reference

31 March 2020

Treatment of dystonia

1 reference

Central effects of botulinum toxin type A: evidence and supposition.

31 March 2020

1 reference

Deep brain stimulation for dystonia

31 March 2020

1 reference

Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study

31 March 2020

1 reference

Botulinum Toxin as a Biological Weapon: Medical and Public Health Management

31 March 2020

1 reference

Differences in somatosensory hand organization in a healthy flutist and a flutist with focal hand dystonia: a case report

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NRN2337

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285800%20AND%20SRC:MED&resulttype=core&format=json

release_rhmh2riltfchjmhgkq3qx7ov4q

3 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rhmh2riltfchjmhgkq3qx7ov4q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference