(Q36317125)

13 August 2017

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

1 reference

13 August 2017

3

C D Marsden

1 reference

13 August 2017

P R Jarman

1

1 reference

13 August 2017

O Bandmann

series ordinal

2

1 reference

13 August 2017

N W Wood

series ordinal

4

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 September 1997

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

13 August 2017

1 reference

13 August 2017

63

1 reference

13 August 2017

3

1 reference

13 August 2017

304-308

1 reference

Dystonia musculorum deformans in siblings; treated with artane (trihexyphenidyl).

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Lessons from a remarkable family with dopa-responsive dystonia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

30 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=2169710

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Clinical diagnosis of Binswanger's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Human gene for torsion dystonia located on chromosome 9q32-q34.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

A genetic study of idiopathic torsion dystonia in the United Kingdom.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

REMARKABLE RESPONSE TO BENZHEXOL HYDRO-CHLORIDE (ARTANE) IN CHILDREN WITH AN UNUSUAL PROGRESSIVE STRIATAL SYNDROME: A REPORT ON 3 CASES.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Linkage analysis in British and French families with idiopathic torsion dystonia

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169710

Hereditary progressive dystonia with marked diurnal fluctuation

22 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34

1 reference

12 December 2020

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Subcortical arteriosclerotic encephalopathy. Review of the literature on the so-called Binswanger's disease and presentation of two cases

1 reference

12 December 2020

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

1 reference

12 December 2020

High dosage anticholinergic therapy in dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.63.3.304

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

9328244

1 reference