The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families: Frequency, clinical and genetic correlates

Brain

Volumn 121, Issue 3, 1998, Pages 459-467

  Giunti, P ^a   Sabbadini, G ^b   Sweeney, M G ^a   Davis, M B ^a   Veneziano, L ^b   Mantuano, E ^b   Federico, A ^c   Plasmati, R ^d   Frontali, M ^b   Wood, N W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CNR   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

^d BELLARIA HOSPITAL   (Italy)

Author keywords

Autosomal dominant cerebellar ataxia; SCA2; Trinucleotide repeat

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 12Q; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; TENDON REFLEX; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGING; CEREBELLAR ATAXIA; FEMALE; GENE FREQUENCY; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION; SEX CHARACTERISTICS; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 0031906658     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.3.459     Document Type: Article

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