Mutation screening of the DYT6/THAP1 gene in Italy

Movement Disorders

Volumn 24, Issue 16, 2009, Pages 2424-2427

  Bonetti, Monica ^a   Barzaghi, Chiara ^b   Brancati, Francesco ^a,c   Ferraris, Alessandro ^a   Bellacchio, Emanuele ^a   Giovanetti, Alessandro ^b   Ialongo, Tamara ^d   Zorzi, Giovanna ^b   Piano, Carla ^d   Petracca, Martina ^d   Albanese, Alberto ^b   Nardocci, Nardo ^b   Dallapiccola, Bruno ^a   Bentivoglio, Anna Rita ^d   Garavaglia, Barbara ^b   Valente, Enza Maria ^a,e  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

Author keywords

DYT6; Primary torsion dystonia; THAP1; Torticollis

Indexed keywords

ARGININE; BOTULINUM TOXIN; CHOLINERGIC RECEPTOR BLOCKING AGENT; CYSTEINE; DYT1 PROTEIN; DYT6 PROTEIN; MUSCLE RELAXANT AGENT; PROTEIN; TETRABENAZINE; THANATOS ASSOCIATED PROTEIN DOMAIN CONTAINING APOPTOSIS ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARM; ARTICLE; CERVICAL DYSTONIA; CERVICAL SPINE; CHILD; COHORT ANALYSIS; DRUG TREATMENT FAILURE; DYSTONIA; EXON; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GREECE; HETEROZYGOTE; HUMAN; INFANT; ITALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SKULL; TORSION DYSTONIA; WRITER'S CRAMP;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; APOPTOSIS REGULATORY PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA-BINDING PROTEINS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENETIC TESTING; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 73949087195     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22861     Document Type: Article

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