(Q45966257)

18 December 2017

title

Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain). (English)

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18 December 2017

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12

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18 December 2017

author name string

Eduardo López-Laso

1

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18 December 2017

Juan José Ochoa-Sepúlveda

2

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18 December 2017

Juan José Ochoa-Amor

3

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18 December 2017

Enrique Bescansa-Heredero

4

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18 December 2017

Rafael Camino-León

5

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18 December 2017

Francisco Javier Gascón-Jiménez

6

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18 December 2017

Maria Elena Mateos-González

7

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18 December 2017

Juan Luis Pérez-Navero

8

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18 December 2017

José Ignacio Lao-Villadóniga

9

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18 December 2017

Aida Ormazabal

10

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18 December 2017

Rafael Artuch

11

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18 December 2017

publication date

16 June 2009

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18 December 2017

published in

Journal of Neurology

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18 December 2017

volume

256

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18 December 2017

issue

11

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18 December 2017

page(s)

1816-1824

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18 December 2017

https://scigraph.springernature.com/pub.10.1007/s00415-009-5198-z

exact match

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS00415-009-5198-Z

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5198-Z

Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia

21 January 2018

1 reference

12 December 2020

Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness

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12 December 2020

Diagnostic criteria for dystonia in DYT1 families

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12 December 2020

Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency

1 reference

12 December 2020

A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia

1 reference

12 December 2020

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

1 reference

12 December 2020

Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations

1 reference

12 December 2020

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

1 reference

12 December 2020

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.

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12 December 2020

Dystonia sensitive to levodopa

1 reference

12 December 2020

Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis

1 reference

12 December 2020

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

1 reference

12 December 2020

New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism

1 reference

12 December 2020

Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The long-term response to levodopa in dopa-responsive dystonia

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

12 December 2020

10.1007/S00415-009-5198-Z

Identifiers

DOI

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18 December 2017

Dimensions Publication ID

1010545916

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Fatcat ID

release_ngxxkg47bvbujpc6cbzh4trcw4

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Fatcat

https://api.fatcat.wiki/v0/release/ngxxkg47bvbujpc6cbzh4trcw4

24 November 2022

mapped directly with Wikidata item

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18 December 2017