Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia (Q48377349)

11 February 2018

title

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia (English)

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11 February 2018

author

Jessie Theuns

1

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Sebastiaan Engelborghs

14

Sebastiaan Engelborghs

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Dirk Goossens

Dirk Goossens

Christine Van Broeckhoven

7

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17

Christine Van Broeckhoven

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15

Peter Paul De Deyn

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Maria Mattheijssens

11

Maria Mattheijssens

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Patrick Cras

16

Patrick Cras

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Barbara A Pickut

12

Barbara Pickut

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Jurgen Del Favero

13

Jurgen Del-Favero

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Ellen Corsmit

8

Ellen Corsmit

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Kristel Sleegers

6

Kristel Sleegers

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Karen Nuytemans

4

Karen Nuytemans

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Bram Meeus

5

Bram Meeus

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author name string

David Crosiers

2

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Luc Debaene

3

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Ellen Elinck

9

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Karin Peeters

10

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language of work or name

English

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publication date

13 September 2012

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11 February 2018

published in

Movement Disorders

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volume

27

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issue

11

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page(s)

1451-1456

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Hereditary progressive dystonia with marked diurnal fluctuation

cites work

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

21 January 2018

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

21 January 2018

1 reference

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

21 January 2018

1 reference

Tandem repeats finder: a program to analyze DNA sequences

21 January 2018

1 reference

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

21 January 2018

1 reference

Allegro, a new computer program for multipoint linkage analysis

21 January 2018

1 reference

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

21 January 2018

1 reference

novoSNP, a novel computational tool for sequence variation discovery

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

21 January 2018

1 reference

GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression

21 January 2018

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GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.25147

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11 February 2018

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11 February 2018