(Q73734922)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11295799%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism (English)

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6 November 2019

1

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6 November 2019

author name string

L Vidal

2

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6 November 2019

M Godoy

3

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6 November 2019

J J Ochoa

4

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6 November 2019

J García de Yébenes

5

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6 November 2019

publication date

1 March 2001

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6 November 2019

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6 November 2019

volume

16

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6 November 2019

issue

2

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6 November 2019

page(s)

364-366

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

6 November 2019

cites work

1 reference

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

21 January 2018

1 reference

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia

21 January 2018

1 reference

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs

21 January 2018

1 reference

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

21 January 2018

1 reference

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia

21 January 2018

1 reference

A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia

21 January 2018

1 reference

Dopa-responsive dystonia: A clinical and molecular genetic study

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.1044

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11295799%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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