Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

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Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Rare GCH1 heterozygous variants contributing to Parkinson's disease.

P2860

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P2860

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Item

http://www.wikidata.org/entity/Q48416304

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh-hant

name

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

@en

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

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type

Item

label

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

@en

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

@nl

prefLabel

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

@en

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

@nl

P1476

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

@en

P2093

Alex Rajput

http://www.w3.org/2001/XMLSchema#string

Ali H Rajput

http://www.w3.org/2001/XMLSchema#string

Holly E Sherman

http://www.w3.org/2001/XMLSchema#string

Ilaria Guella

http://www.w3.org/2001/XMLSchema#string

P2860

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

TYROSINE HYDROXYLASE. THE INITIAL STEP IN NOREPINEPHRINE BIOSYNTHESIS

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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

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

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

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

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

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

P304

e349

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P31

scholarly article

P356

10.1093/BRAIN/AWU341

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P407

English

P433

Pt 5

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P478

138

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P50

Matthew J. Farrer

Silke Appel-Cresswell

P577

2014-12-13T00:00:00Z

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P698

25497597

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P921

Parkinson's disease

P932

5963401

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Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

about

P2860

P2860

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P932