(Q36580711)

15 August 2017

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

1 reference

15 August 2017

18

Z K Wszolek

1 reference

15 August 2017

17

M J Farrer

1 reference

15 August 2017

C Wider

1

1 reference

15 August 2017

S Melquist

2

1 reference

15 August 2017

M Hauf

3

1 reference

15 August 2017

A Solida

4

1 reference

15 August 2017

S A Cobb

5

1 reference

15 August 2017

J M Kachergus

6

1 reference

15 August 2017

J Gass

7

1 reference

15 August 2017

K D Coon

8

1 reference

15 August 2017

M Baker

9

1 reference

15 August 2017

A Cannon

10

1 reference

15 August 2017

D A Stephan

11

1 reference

15 August 2017

D F Schorderet

12

1 reference

15 August 2017

J Ghika

13

1 reference

15 August 2017

P R Burkhard

14

1 reference

15 August 2017

G Kapatos

15

1 reference

15 August 2017

M Hutton

16

1 reference

15 August 2017

F J G Vingerhoets

19

1 reference

15 August 2017

language of work or name

English

0 references

publication date

5 September 2007

1 reference

15 August 2017

1 reference

15 August 2017

70

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15 August 2017

16 Pt 2

1 reference

15 August 2017

1377-1383

1 reference

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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Genetics of Parkinson disease: paradigm shifts and future prospects.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

9 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=2330252

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families 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=2330252

AUTOGSCAN: powerful tools for automated genome-wide linkage and linkage disequilibrium analysis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Nigrostriatal dopamine neurons express low levels of GTP cyclohydrolase I protein.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2330252

Hereditary progressive dystonia with marked diurnal fluctuation

4 December 2018

1 reference

12 December 2020

Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family

1 reference

12 December 2020

Tetrahydrobiopterin biosynthesis in the rat brain: heterogeneity of GTP cyclohydrolase I mRNA expression in monoamine-containing neurons

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

10.1212/01.WNL.0000275527.35752.C5

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference