(Q74309042)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

N Nishiyama

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Yukishita

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

H Hagiwara

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

S Kakimoto

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Y Nomura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M Segawa

6

1 reference

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10 November 2019

publication date

1 September 2000

1 reference

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10 November 2019

published in

Brain and Development

1 reference

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10 November 2019

volume

22 Suppl 1

1 reference

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10 November 2019

page(s)

S102-6

1 reference

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

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

Dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

Tardive dyskinesia in dopa-responsive dystonia: a reappraisal of the dopamine hypothesis of tardive dyskinesia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

Dopa-responsive dystonia: A clinical and molecular genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

A new GTP-cyclohydrolase I mutation in an unusual doparesponsive dystonia, familial form

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

GCH1 mutation in a patient with adult-onset oromandibular dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

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%2FS0387-7604%2800%2900152-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900152-2

7 January 2021

10.1016/S0387-7604(00)00152-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10984668%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference