(Q48107730)

8 February 2018

editorial

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review article

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title

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

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8 February 2018

author name string

Furukawa Y

series ordinal

1

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8 February 2018

Kish SJ

series ordinal

2

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8 February 2018

language of work or name

English

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publication date

1 September 1999

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8 February 2018

published in

Movement Disorders

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8 February 2018

volume

14

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8 February 2018

issue

5

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8 February 2018

page(s)

709-715

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8 February 2018

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

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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

21 January 2018

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

21 January 2018

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Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

21 January 2018

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

21 January 2018

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International database of tetrahydrobiopterin deficiencies

21 January 2018

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21 January 2018

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Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia

21 January 2018

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21 January 2018

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GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice

21 January 2018

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Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset

21 January 2018

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Sexual differentiation of monoaminergic neurons - genetic or epigenetic?

21 January 2018

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Active site topology and reaction mechanism of GTP cyclohydrolase I

21 January 2018

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6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

21 January 2018

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"7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases

21 January 2018

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GTP cyclohydrolase I feedback regulatory protein is expressed in serotonin neurons and regulates tetrahydrobiopterin biosynthesis

21 January 2018

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Dopa-responsive dystonia: pathological and biochemical observations in a case

21 January 2018

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Uneven pattern of dopamine loss in the striatum of patients with idiopathic Parkinson's disease. Pathophysiologic and clinical implications

21 January 2018

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Forms of dystonia in patients with Parkinson's disease

21 January 2018

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Human brain dopamine receptors in children and aging adults

21 January 2018

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

21 January 2018

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Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia

21 January 2018

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Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism

21 January 2018

1 reference

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

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Molecular basis of genetic heterogeneity: role of the clinical neurologist

21 January 2018

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Dopa-responsive dystonia: A clinical and molecular genetic study

21 January 2018

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Idiopathic, myoclonic and Dopa-responsive dystonia.

21 January 2018

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GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

21 January 2018

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Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199909%2914%3A5%3C709%3A%3AAID-MDS1001%3E3.0.CO%3B2-T

Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199909%2914%3A5%3C709%3A%3AAID-MDS1001%3E3.0.CO%3B2-T

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28199909%2914%3A5%3C709%3A%3AAID-MDS1001%3E3.0.CO%3B2-T

10.1002/1531-8257(199909)14:5<709::AID-MDS1001>3.0.CO;2-T

21 January 2018

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DOI

1 reference

8 February 2018

1 reference

8 February 2018