(Q37949772)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Thomas T. Warner

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Julie Phukan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Thomas Gasser

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

24 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

1074-1085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030388%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

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7 January 2021

EFNS guidelines on diagnosis and treatment of primary dystonias

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7 January 2021

A prevalence study of primary dystonia in eight European countries

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7 January 2021

The prevalence of primary dystonia in the general community

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7 January 2021

Classification of movement disorders

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7 January 2021

Diagnostic criteria for dystonia in DYT1 families

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7 January 2021

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7 January 2021

Relative risk of spread of symptoms among the focal onset primary dystonias

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7 January 2021

Idiopathic cervical dystonia: clinical characteristics

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7 January 2021

Impact of cervical dystonia on quality of life.

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7 January 2021

Blepharospasm: a review of 264 patients

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7 January 2021

Spasmodic dysphonia: a laryngeal control disorder specific to speech.

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7 January 2021

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7 January 2021

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

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7 January 2021

The role of DYT1 in primary torsion dystonia in Europe

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

AAA proteins. Lords of the ring

1 reference

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7 January 2021

Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain

1 reference

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7 January 2021

TorsinA and dystonia: from nuclear envelope to synapse.

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7 January 2021

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

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7 January 2021

Brainstem pathology in DYT1 primary torsion dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Transgenic mouse model of early-onset DYT1 dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

TorsinA participates in endoplasmic reticulum-associated degradation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

The dystonia-associated protein torsinA modulates synaptic vesicle recycling

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Molecular pathways in dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

1 reference

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7 January 2021

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

A genetic study of idiopathic focal dystonias

1 reference

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7 January 2021

A genetic study of idiopathic focal dystonias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

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

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7 January 2021

Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family

1 reference

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7 January 2021

Search for a founder mutation in idiopathic focal dystonia from Northern Germany

1 reference

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7 January 2021

Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Do primary adult-onset focal dystonias share aetiological factors?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Torsin A haplotype predisposes to idiopathic dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

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%2FS1474-4422%2811%2970232-0

7 January 2021

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Possible risk factors for primary adult onset dystonia: a case-control investigation by the Italian Movement Disorders Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Case-control study of writer's cramp

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Neurophysiology of dystonia: The role of inhibition

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Reciprocal inhibition between forearm muscles in patients with writer's cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to stroke

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Abnormalities of spatial discrimination in focal and generalized dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Temporal processing of visuotactile and tactile stimuli in writer's cramp.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Intracortical excitability in the hand motor representation in hand dystonia and blepharospasm.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Abnormal increase in the corticomotor output to the affected hand during repetitive transcranial magnetic stimulation of the primary motor cortex in patients with writer's cramp

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Alterations of motor cortical inhibition in patients with dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study

1 reference

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7 January 2021

Changes in the balance between motor cortical excitation and inhibition in focal, task specific dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Disturbed surround inhibition in focal hand dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Task-dependent intracortical inhibition is impaired in focal hand dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

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%2FS1474-4422%2811%2970232-0

7 January 2021

Cortical and spinal abnormalities in psychogenic dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Abnormal central integration of a dual somatosensory input in dystonia. Evidence for sensory overflow.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

The basal ganglia: focused selection and inhibition of competing motor programs

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

The metabolic topography of idiopathic torsion dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Impaired sequence learning in dystonia mutation carriers: a genotypic effect

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Regaining motor control in musician's dystonia by restoring sensorimotor organization

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Abnormal associative plasticity of the human motor cortex in writer's cramp

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Enhanced Long-Term Potentiation-Like Plasticity of the Trigeminal Blink Reflex Circuit in Blepharospasm

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Motorcortical excitability and synaptic plasticity is enhanced in professional musicians.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Putamen volume in idiopathic focal dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Changes in brain anatomy in focal hand dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Cerebellothalamocortical connectivity regulates penetrance in dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Diffusion tensor imaging in primary cervical dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Structural white matter abnormalities in patients with idiopathic dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

1 reference

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7 January 2021

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

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%2FS1474-4422%2811%2970232-0

7 January 2021

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

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%2FS1474-4422%2811%2970232-0

7 January 2021

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

The neural substrates of rapid-onset Dystonia-Parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021

Constraint-induced movement therapy for focal hand dystonia in musicians.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2811%2970232-0

7 January 2021