Classification and genetics of dystonia (Q28185777)

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

Europe PubMed Central

title

Classification and genetics of dystonia (English)

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main subject

dystonia

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author name string

Patricia M de Carvalho Aguiar

series ordinal

1

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Laurie J Ozelius

series ordinal

2

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language of work or name

English

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publication date

September 2002

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published in

Lancet Neurology

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volume

1

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issue

5

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page(s)

316-25

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cites work

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The DYT1 phenotype and guidelines for diagnostic testing

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Spread of symptoms in idiopathic torsion dystonia

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A prevalence study of primary dystonia in eight European countries

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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

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

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7 January 2021

A genetic study of idiopathic focal dystonias

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A genetic study of idiopathic focal dystonias

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

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7 January 2021

A genetic study of idiopathic torsion dystonia in the United Kingdom.

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7 January 2021

Familial (idiopathic) paroxysmal dyskinesias: an update

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7 January 2021

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34

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7 January 2021

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

1 reference

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7 January 2021

A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation.

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7 January 2021

The role of DYT1 in primary torsion dystonia in Europe.

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7 January 2021

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia

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7 January 2021

DYT1 mutation in French families with idiopathic torsion dystonia

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7 January 2021

DYT1 mutation in primary torsion dystonia in a Serbian population

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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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

AAA proteins. Lords of the ring

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

TorsinA: movement at many levels

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Alpha-synuclein has an altered conformation and shows a tight intermolecular interaction with ubiquitin in Lewy bodies.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

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7 January 2021

The torsion dystonias: Literature review and genetic and clinical studies

1 reference

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7 January 2021

Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Hereditary whispering dysphonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Evidence for locus heterogeneity in autosomal dominant torsion dystonia

1 reference

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7 January 2021

Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Exclusion of the DYT1 locus in familial torticollis

1 reference

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7 January 2021

Non-DYT1 dystonia in a large Italian family

1 reference

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7 January 2021

Intrafamilial heterogeneity of movement disorders: report of three cases in one family.

1 reference

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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

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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%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

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

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Questionable role of adult-onset focal dystonia among sporadic dystonia patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Genetic analysis of three patients with an 18p- syndrome and dystonia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Dystonia in a patient with deletion of 18p.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Primary torsion dystonia: the search for genes is not over.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

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%2802%2900137-0

7 January 2021

Remission in dihydroxyphenylalanine-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

GCH1 mutation in a patient with adult-onset oromandibular dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Dopa-responsive dystonia simulating cerebral palsy

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

The parkin gene and its phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Molecular genetics of dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Dopa-responsive dystonia: A clinical and molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

Essential myoclonus and myoclonic dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Hereditary essential myoclonus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

The sarcoglycan complex in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Sarcoglycans in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Rapid-onset dystonia-parkinsonism in a second family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Rapid onset dystonia parkinsonism in a 14-year-old girl

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2802%2900137-0

7 January 2021

Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

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%2FS1474-4422%2802%2900137-0

7 January 2021

Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Neuropathology of lubag (x-linked dystonia parkinsonism).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Delineation of the dystonia-parkinsonism syndrome locus in Xq13

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900137-0

7 January 2021

10.1016/S1474-4422(02)00137-0

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

2467087

2467087

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference