(Q48449862)

23 June 2018

title

Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. (English)

1 reference

23 June 2018

1 reference

parkinsonian syndrome

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Yoshiaki Furukawa

1

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23 June 2018

Stephen J Kish

series ordinal

2

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23 June 2018

language of work or name

English

0 references

publication date

21 November 2014

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23 June 2018

published in

Brain

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23 June 2018

volume

138

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23 June 2018

issue

Pt 5

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23 June 2018

page(s)

e351

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23 June 2018

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

24 June 2018

1 reference

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Neuroimaging findings in children with paediatric neurotransmitter diseases.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

SPECT imaging of the dopamine transporter in juvenile-onset dystonia

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

VMAT2 binding is elevated in dopa-responsive dystonia: visualizing empty vesicles by PET.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Can SPET imaging of dopamine uptake sites replace PET imaging in Parkinson's disease? For.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5963400

14 August 2018

Identifiers

DOI

10.1093/BRAIN/AWU325

1 reference

23 June 2018

PMC publication ID

5963400

1 reference

23 June 2018

PubMed publication ID

25416181

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23 June 2018