(Q35211982)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21935284%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

case report

0 references

title

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21935284%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

2

1 reference

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13 February 2020

Kyung-Pil Park

5

1 reference

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13 February 2020

author name string

Jae-Hyeok Lee

1

1 reference

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13 February 2020

Dae-Seong Kim

3

1 reference

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13 February 2020

Jae-Wook Cho

4

1 reference

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13 February 2020

Seonhye Kim

6

1 reference

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13 February 2020

publication date

1 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21935284%20AND%20SRC:MED&resulttype=core&format=json

Journal of Korean Medical Science

13 February 2020

published in

1 reference

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13 February 2020

volume

26

1 reference

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13 February 2020

issue

9

1 reference

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13 February 2020

page(s)

1244-1246

1 reference

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Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Dopa-responsive dystonia: long-term treatment response and prognosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa-responsive dystonia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172666

Hereditary progressive dystonia with marked diurnal fluctuation

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21935284

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3346/JKMS.2011.26.9.1244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21935284%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21935284%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

21935284

1 reference