Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency - Wikidata - wikimedia - TriplyDB

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

http://www.wikidata.org/entity/Q30419465

about

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.Functional dystonia and the borderland between neurology and psychiatry: New concepts.Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.What is new for monoamine neurotransmitter disorders?Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.An unusual presentation of tyrosine hydroxylase deficiency.

P2860

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P2860

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

http://www.wikidata.org/entity/Q30419465

description

2012 nî lūn-bûn

@nan

2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@ast

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@en

type

label

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@ast

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@en

prefLabel

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@ast

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@en

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P1476

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

@en

P2093

Amit Batla

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

Carla Cordivari

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

Henry Houlden

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

Niccolo E Mencacci

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

Nick W Wood

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

P2860

Disorders of biopterin metabolism

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

Genetic heterogeneity in ten families with myoclonus-dystonia.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Movement disorders in neuro-metabolic diseases.

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

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

The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice.

Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription.

Tyrosine hydroxylase gene promoter activity is regulated by both cyclic AMP-responsive element and AP1 sites following calcium influx. Evidence for cyclic amp-responsive element binding protein-independent regulation.

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435-441

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5

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79

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Kailash Phatechand Bhatia

John Anthony Hardy

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2012-07-18T00:00:00Z

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22815559

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3405253

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