(Q34044060)

30 July 2017

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers (English)

1 reference

30 July 2017

1 reference

5

1 reference

Kailash Phatechand Bhatia

30 July 2017

32

0 references

44

Kailash P Bhatia

1 reference

30 July 2017

16

Alexander Münchau

1 reference

30 July 2017

Paulo Alegria

28

0 references

Kin Y Mok

Kin Y Mok

12

0 references

Giorgio Marotta

Giorgio Marotta

26

0 references

Alan Pittman

Alan M Pittman

10

0 references

Ioannis Isaias

Ioannis U Isaias

2

0 references

Jose Bras

Jose Bras

7

0 references

Jens Volkmann

Jens Volkmann

17

0 references

Sulev Kõks

Sulev Koks

38

0 references

Nicholas W. Wood

Nicholas W Wood

45

0 references

Suzanne Lesage

31

Suzanne Lesage

1 reference

30 July 2017

34

Thomas Gasser

1 reference

30 July 2017

29

Paul Krack

1 reference

30 July 2017

27

Andrew Lees

1 reference

30 July 2017

25

Gianni Pezzoli

1 reference

30 July 2017

42

John Hardy

1 reference

30 July 2017

33

Peter Heutink

1 reference

30 July 2017

4

Christos Ganos

1 reference

30 July 2017

9

Maria Stamelou

1 reference

30 July 2017

41

Andrew Singleton

1 reference

30 July 2017

36

Huw R Morris

1 reference

30 July 2017

43

Stephan Klebe

1 reference

30 July 2017

11

Alastair J Noyce

1 reference

30 July 2017

35

Steven J Lubbe

1 reference

30 July 2017

40

J Raphael Gibbs

1 reference

30 July 2017

8

Joshua Hersheson

1 reference

Florence Cormier-Dequaire

30 July 2017

30

Florence Cormier-Dequaire

1 reference

30 July 2017

39

Elisa Majounie

1 reference

30 July 2017

21

Mary G Sweeney

1 reference

30 July 2017

Niccolò E Mencacci

1

1 reference

30 July 2017

Martin M Reich

3

1 reference

30 July 2017

James M Polke

6

1 reference

30 July 2017

Thomas Opladen

13

1 reference

30 July 2017

Erdmute Kunstmann

14

1 reference

30 July 2017

Sybille Hodecker

15

1 reference

30 July 2017

Samuel Samnick

18

1 reference

30 July 2017

Katie Sidle

19

1 reference

30 July 2017

Tina Nanji

20

1 reference

30 July 2017

Henry Houlden

22

1 reference

30 July 2017

Amit Batla

23

1 reference

30 July 2017

Anna L Zecchinelli

24

1 reference

30 July 2017

Pille Taba

37

1 reference

30 July 2017

International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium

46

1 reference

30 July 2017

language of work or name

English

0 references

publication date

2 July 2014

1 reference

30 July 2017

1 reference

30 July 2017

137

1 reference

30 July 2017

Pt 9

1 reference

30 July 2017

2480-2492

1 reference

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

The genetics and neuropathology of Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

A two-stage meta-analysis identifies several new loci for Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Activation of phosphoinositide 3-kinase by D2 receptor prevents apoptosis in dopaminergic cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Chronic L-DOPA administration is not toxic to the remaining dopaminergic nigrostriatal neurons, but instead may promote their functional recovery, in rats with partial 6-OHDA or FeCl(3) nigrostriatal lesions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

New pathologic observations in juvenile onset parkinsonism with dystonia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Dopamine protects neurons against glutamate-induced excitotoxicity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Automatic semi-quantification of [123I]FP-CIT SPECT scans in healthy volunteers using BasGan version 2: results from the ENC-DAT database.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Longitudinal evolution of compensatory changes in striatal dopamine processing in Parkinson's disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Does levodopa accelerate the pathologic process in Parkinson disease brain?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

28 October 2018

Imaging essential tremor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

GCH1 in early-onset Parkinson's disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

The phenylalanine loading test in the differential diagnosis of dystonia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Comparison between the decrease of dopamine transporter and that of L-DOPA uptake for detection of early to advanced stage of Parkinson's disease in animal models.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

Dopa-responsive dystonia: A clinical and molecular genetic study

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4132650

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

28 October 2018

1 reference

12 December 2020

Dopa-responsive dystonia is induced by a dominant-negative mechanism

1 reference

12 December 2020

Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?

1 reference

12 December 2020

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

1 reference

12 December 2020

A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Expanding the clinical phenotype of DYT5 mutations: Is multiple system atrophy a possible one?

1 reference

12 December 2020

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with 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

Dopa-responsive dystonia: some pieces of the puzzle are still missing

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWU179

1 reference

30 July 2017

1 reference

30 July 2017

1 reference