Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation-Reference-Cited by-同舟云学术

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Published:2010-03-02 Issue:8 Volume:25 Page:1086-1090
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Pons Roser,Serrano Mercedes,Ormazabal Aida,Toma Claudio,Garcia-Cazorla Angels,Area Estela,Ribasés Marta,Kanavakis Emmanuel,Drakaki Kaliopi,Giannakopoulos Aristotelis,Orfanou Irene,Youroukos Sotiris,Cormand Bru,Artuch Rafael

Funder

Agencia de Gestio d'Ajuts Universitaris i de Recerca AGAUR

Ministry of Science and Innovation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23002/fullpdf

Reference25 articles.

1. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis;Nagatsu;J Biol Chem,1964

2. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene;Knappskog;Hum Mol Genet,1995

3. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome;Ludecke;Hum Genet,1995

4. Recessively inherited L-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene;Ludecke;Hum Mol Genet,1996

5. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa-responsive dystonia in the Dutch population;Steenbergen-Spanjers;Hum Genet,1998

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