Novel mutation in the TOR1A [DYT1] gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Neurogenetics

Volumn 3, Issue 3, 2001, Pages 133-143

  Leung, Joanne Chung On ^a   Klein, Christine ^a,b   Friedman, Jennifer ^a   Vieregge, Peter ^b   Jacobs, Helfried ^b   Doheny, Dana ^c   Kamm, Christoph ^a   DeLeon, Deborah ^d   Pramstaller, Peter P ^e   Penney, John B ^a   Eisengart, Marvin ⁱ   Jankovic, Joseph ^f   Gasser, Thomas ^g   Bressman, Susan B ^d   Corey, David P ^a   Kramer, Patricia ^h   Brin, Mitchell F ^c   Ozelius, Laurie J ^j   Breakefield, Xandra O ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF LÜBECK   (Germany)

^c MOUNT SINAI HOSPITAL   (United States)

^d BETH ISRAEL MEDICAL CENTER   (United States)

^e Regional Hospital   (Italy)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ Maine General Medical Center   (United States)

^j ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

more..

Author keywords

18 bp deletion; Early onset parkinsonism; Multiphor single strand conformational polymorphism analysis; Myoclonus dystonia; TOR1A (DYT1)

Indexed keywords

CARRIER PROTEIN; CHAPERONE; DYT1 PROTEIN, HUMAN; PRIMER DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; HUMAN; INFANT; MALE; MIDDLE AGED; MUTATION; ONSET AGE; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; TORSION DYSTONIA;

ADOLESCENT; ADULT; AGE OF ONSET; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; PARKINSON DISEASE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 18044403431     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480100111     Document Type: Article

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