(Q37044346)

17 August 2017

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

1 reference

genotype-phenotype correlation

17 August 2017

1 reference

1 reference

Lihua Yu

1

1 reference

17 August 2017

Huayong Zhou

series ordinal

2

1 reference

17 August 2017

Fayun Hu

series ordinal

3

1 reference

17 August 2017

Yanming Xu

series ordinal

4

1 reference

17 August 2017

5 December 2012

1 reference

European Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

21

1 reference

17 August 2017

7

1 reference

17 August 2017

731-735

1 reference

17 August 2017

Dystonia-plus syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Update on dopa-responsive dystonia: locus heterogeneity and biochemical features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

29 September 2017

Dopa-responsive dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722942

Dopa-responsive dystonia: A clinical and molecular genetic study

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.239

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group

21 January 2018

1 reference

12 December 2020

A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

GCH1 mutation in a patient with adult-onset oromandibular dystonia

1 reference

12 December 2020

Frequency of GCH1 deletions in Dopa-responsive dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.239

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23211702

1 reference