Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease

Parkinsonism and Related Disorders

Volumn 21, Issue 4, 2015, Pages 394-397

  Lewthwaite, A J ^a,b,c   Lambert, T D ^a   Rolfe, E B ^a   Olgiati, S ^d   Quadri, M ^d   Simons, E J ^d   Morrison, K E ^a,c   Bonifati, V ^d   Nicholl, D J ^a,e  

^a QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^b DUDLEY GROUP OF HOSPITALS NHS TRUST   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e SANDWELL AND WEST BIRMINGHAM HOSPITALS NHS TRUST   (United Kingdom)

Author keywords

Dopa responsive dystonia; GCH1; Parkinson's disease; SPECT DAT imaging

Indexed keywords

DJ 1 PROTEIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEUCINE RICH REPEAT KINASE 2; PARKIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE COURSE; DJ 1 GENE; DOPAMINE RESPONSIVE DYSTONIA; DYSTONIA; FEMALE; GCH1 GENE; GENE; GENE IDENTIFICATION; HUMAN; LRRK2 GENE; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PARKIN GENE; PARKINSON DISEASE; PATHOGENICITY; PINK1 GENE; PRIORITY JOURNAL; SNCA GENE; VERY ELDERLY; DYSTONIC DISORDER; GENETICS; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE;

ADULT; AGED; AGED, 80 AND OVER; DYSTONIC DISORDERS; FEMALE; GTP CYCLOHYDROLASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; PHENOTYPE;

EID: 84925348185     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.01.004     Document Type: Article

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