GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients (Q34769701)

4 August 2017

title

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients (English)

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4 August 2017

Chunyou Cai

1

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4 August 2017

Wentao Shi

2

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4 August 2017

Zheng Zeng

3

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4 August 2017

Meiyun Zhang

4

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4 August 2017

Chao Ling

5

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4 August 2017

Lei Chen

6

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4 August 2017

Chunquan Cai

7

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4 August 2017

Benshu Zhang

8

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4 August 2017

Wei-Dong Li

9

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4 August 2017

language of work or name

English

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publication date

6 June 2013

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4 August 2017

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4 August 2017

volume

8

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4 August 2017

issue

6

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4 August 2017

page(s)

e65215

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Creative Commons Attribution 4.0 International

4 August 2017

copyright license

start time

6 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

7 July 2018

Dopa-responsive dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

7 July 2018

1 reference

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Primer3 on the WWW for general users and for biologist programmers

7 July 2018

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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

7 July 2018

1 reference

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Atomic structure of GTP cyclohydrolase I

7 July 2018

1 reference

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Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14.

7 July 2018

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Broadening the phenotype of childhood-onset dopa-responsive dystonia.

21 January 2018

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21 January 2018

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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

21 January 2018

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Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.

21 January 2018

1 reference

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High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia

21 January 2018

1 reference

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Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675154

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

26 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065215

Hereditary progressive dystonia with marked diurnal fluctuation

21 January 2018

1 reference

12 December 2020

Dopa-responsive dystonia

1 reference

12 December 2020

Frequency of GCH1 deletions in Dopa-responsive dystonia

1 reference

12 December 2020

Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter

1 reference

12 December 2020

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0065215

Identifiers

DOI

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4 August 2017

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4 August 2017

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