PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family

Movement Disorders

Volumn 31, Issue 5, 2016, Pages 765-767

  Quadri, Marialuisa ^a   Olgiati, Simone ^a   Sensi, Mariachiara ^b   Gualandi, Francesca ^b   Groppo, Elisabetta ^b   Rispoli, Vittorio ^b   Graafland, Josja ^a   Breedveld, Guido J ^a   Fabbrini, Giovanni ^c   Berardelli, Alfredo ^c   Bonifati, Vincenzo ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL OF FERRARA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Dystonia; DYT16; Founder mutation; Genetics; Parkinsonism

Indexed keywords

BACLOFEN; CHOLINERGIC RECEPTOR BLOCKING AGENT; CLONAZEPAM; LEVODOPA; ZOLPIDEM; PRKRA PROTEIN, HUMAN; RNA BINDING PROTEIN;

ARTICLE; BRAIN DEPTH STIMULATION; CLINICAL ARTICLE; EXOME; GENE MUTATION; GENE SEQUENCE; GENERALIZED DYSTONIA; GENETIC LINKAGE; HUMAN; ITALIAN (CITIZEN); MALE; MARKER GENE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; PRKRA GENE; SEQUENCE ANALYSIS; CASE REPORT; DYSTONIA; DYSTONIC DISORDER; FEMALE; GENETICS; ITALY; MUTATION; ONSET AGE;

AGE OF ONSET; DYSTONIA; DYSTONIC DISORDERS; FEMALE; HUMANS; ITALY; MALE; MUTATION; PARKINSONIAN DISORDERS; RNA-BINDING PROTEINS;

EID: 84961285340     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26583     Document Type: Article

References (6)

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