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

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8 February 2018

Kish SJ

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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

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8 February 2018

issue

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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

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

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

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Sexual differentiation of monoaminergic neurons - genetic or epigenetic?

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Active site topology and reaction mechanism of GTP cyclohydrolase I

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

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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

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

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

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

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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Molecular basis of genetic heterogeneity: role of the clinical neurologist

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Dopa-responsive dystonia: A clinical and molecular genetic study

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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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21 January 2018

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

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

21 January 2018

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Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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8 February 2018

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8 February 2018