(Q43079461)

13 November 2017

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis (English)

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13 November 2017

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13 November 2017

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13 November 2017

Dimitrios I. Zafeiriou

object named as

Dimitrios I Zafeiriou

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author name string

Michèl A Willemsen

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13 November 2017

Marcel M Verbeek

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13 November 2017

Erik-Jan Kamsteeg

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13 November 2017

Johanneke F de Rijk-van Andel

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13 November 2017

Alec Aeby

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13 November 2017

Alberto Burlina

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13 November 2017

Maria A Donati

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13 November 2017

Ben Geurtz

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13 November 2017

Padraic J Grattan-Smith

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13 November 2017

Martin Haeussler

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13 November 2017

Georg F Hoffmann

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13 November 2017

Hans Jung

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13 November 2017

Johannis B de Klerk

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13 November 2017

Marjo S van der Knaap

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13 November 2017

Fernando Kok

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13 November 2017

Pascale de Lonlay

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13 November 2017

Andre Megarbane

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13 November 2017

Hugh Monaghan

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13 November 2017

Willy O Renier

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13 November 2017

Pierre Rondot

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13 November 2017

Jürgen Seeger

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13 November 2017

Jan A Smeitink

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13 November 2017

Gerry C Steenbergen-Spanjers

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13 November 2017

Evangeline Wassmer

27

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13 November 2017

Bernhard Weschke

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13 November 2017

Frits A Wijburg

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13 November 2017

Bridget Wilcken

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13 November 2017

Ron A Wevers

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13 November 2017

language of work or name

English

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publication date

29 April 2010

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13 November 2017

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13 November 2017

133

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13 November 2017

Pt 6

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13 November 2017

1810-1822

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A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force

13 November 2017

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Dopamine receptor mRNA and protein expression in the mouse corpus striatum and cerebral cortex during pre- and postnatal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Tyrosinase: a developmentally specific major determinant of peripheral dopamine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Mutations in human monoamine-related neurotransmitter pathway genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

L-dopa and selegiline for tyrosine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

A novel nonneuronal catecholaminergic system: exocrine pancreas synthesizes and releases dopamine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

The monogenic primary dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Clinical and molecular genetics of primary dystonias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Oculocutaneous albinism type 1: the last 100 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Tyrosine hydroxylase deficiency with severe clinical course.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ087

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ087

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13 November 2017

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