The genetics of dystonia: New twists in an old tale

Brain

Volumn 136, Issue 7, 2013, Pages 2017-2037

  Charlesworth, Gavin ^a   Bhatia, Kailash P ^a   Wood, Nicholas W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

clinical phenotype; dystonia; genetics; molecular mechanisms

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; ALPHA FETOPROTEIN; AMINO ACID; AROMATIC LEVO AMINO ACID DECARBOXYLASE; BIOPTERIN; CATECHOLAMINE; CERULOPLASMIN; COPPER; CREATINE KINASE; DOPAMINE; DOPAMINE TRANSPORTER; DYSPROPTERIN; FERRITIN; GUANOSINE TRIPHOSPHATE; HOMOVANILLIC ACID; LACTIC ACID; MANGANESE; NEOPTERIN; NORADRENALIN; PHENYLALANINE; PYRUVIC ACID; SEPIAPTERIN REDUCTASE; SEROTONIN; TETRAHYDROBIOPTERIN; TRYPTOPHAN; TRYPTOPHAN HYDROXYLASE; TYROSINE; TYROSINE 3 MONOOXYGENASE;

ACANTHOCYTOSIS; ALGORITHM; AMINO ACID URINE LEVEL; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSTONIA; ELECTRORETINOGRAPHY; FERRITIN BLOOD LEVEL; FOCAL DYSTONIA; GENE; GENE LOCUS; GENERALIZED DYSTONIA; GENETIC SCREENING; GENETICS; HEMIDYSTONIA; HEREDODEGENERATIVE DYSTONIA; HUMAN; LIVER BIOPSY; MOLECULAR PATHOLOGY; MONOGENIC DISORDER; MULTIFOCAL DYSTONIA; MUSCLE ATONIA; MUSCLE BIOPSY; MUTATION; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PREDICTION; PRIMARY DYSTONIA; PRIMARY PAROXYSMAL DYSTONIA; PRIMARY PLUS DYSTONIA; PRIMARY PURE DYSTONIA; PRIORITY JOURNAL; REVIEW; SECONDARY DYSTONIA; SEGMENTAL DYSTONIA; SLIT LAMP; TORSION DYSTONIA; URINE;

EID: 84879917461     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt138     Document Type: Review

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