(Q34353555)

1 August 2017

1 reference

title

Dystonia and its disorders (English)

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1 August 2017

0 references

Friedman J

1

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1 August 2017

Standaert DG

series ordinal

2

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1 August 2017

publication date

1 August 2001

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1 August 2017

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1 August 2017

volume

19

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1 August 2017

issue

3

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1 August 2017

page(s)

681-705, vii

1 reference

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The functional anatomy of basal ganglia disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Dopa-responsive dystonia: A clinical and molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Variable phenotype of rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The DYT1 phenotype and guidelines for diagnostic testing

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Penicillamine should not be used as initial therapy in Wilson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Cervical dystonia due to spinal cord ependymoma: involvement of cervical cord segments in the pathogenesis of dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Ulnar neuropathy and dystonic flexion of the fourth and fifth digits: clinical correlation in musicians

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Paroxysmal dyskinesias: clinical features and classification

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Wilson's disease. Psychiatric symptoms in 195 cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Sustained effect of high-dose intrathecal baclofen in primary generalized dystonia: a 2-year follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The metabolic topography of idiopathic torsion dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Functional brain networks in DYT1 dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Outcome of selective ramisectomy for botulinum toxin resistant torticollis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Dopa-responsive dystonia: recent advances and remaining issues to be addressed

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Diagnosis of Wilson's disease: an experience over three decades

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Delineation of the dystonia-parkinsonism syndrome locus in Xq13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The neurophysiology of dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

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%2FS0733-8619%2805%2970040-2

7 January 2021

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

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%2FS0733-8619%2805%2970040-2

7 January 2021

Abnormal cortical motor excitability in dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Botulinum toxin in movement disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Genetics of primary dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Human deafness dystonia syndrome is a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

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%2FS0733-8619%2805%2970040-2

7 January 2021

Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Penicillamine as a controversial treatment for Wilson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

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%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The anatomical basis of symptomatic hemidystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Clinical and molecular genetics of primary dystonias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Epidemiology of focal and generalized dystonia in Rochester, Minnesota

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The current model of basal ganglia organization under scrutiny

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Paroxysmal dystonia due to a lesion of the cervical cord: case report

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Essential myoclonus and myoclonic dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

1 reference

7 January 2021

GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Does ulnar neuropathy predispose to focal dystonia?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Hand dystonia secondary to cervical demyelinating lesion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

The role of DYT1 in primary torsion dystonia in Europe.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

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%2FS0733-8619%2805%2970040-2

7 January 2021

Neuronal activity in the basal ganglia in patients with generalized dystonia and hemiballismus.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

A genetic study of idiopathic focal dystonias

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Intrathecal baclofen for dystonia: benefits and complications during six years of experience

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Mitochondria and dystonia: the movement disorder connection?

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Penicillamine: the treatment of first choice for patients with Wilson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Linkage analysis in British and French families with idiopathic torsion dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Neuropathology of lubag (x-linked dystonia parkinsonism).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Electrical stimulation of the subthalamic nucleus in advanced Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Can peripheral trauma induce dystonia and other movement disorders? Yes!

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

Posteroventral medial pallidotomy in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970040-2

7 January 2021

10.1016/S0733-8619(05)70040-2

Identifiers

DOI

1 reference

1 August 2017

1 reference