Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene (Q24314922)

neuromuscular process controlling posture

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

H Ichinose

1

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author name string

T Ohye

2

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E Takahashi

3

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N Seki

4

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T Hori

5

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M Segawa

6

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Y Nomura

7

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K Endo

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H Tanaka

9

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S Tsuji

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

10

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language of work or name

English

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publication date

November 1994

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published in

Nature Genetics

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volume

8

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issue

3

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page(s)

236-42

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cites work

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

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In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin

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Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia

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Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials

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Dystonia with marked diurnal variation associated with biopterin deficiency

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Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency

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

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GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

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Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

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Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization

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