A survey of spinocerebellar ataxia South Brazil - 66 New cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations

Journal of Neurology

Volumn 248, Issue 10, 2001, Pages 870-876

  Jardim, Laura Bannach ^a   Silveira, Isabel ^d   Pereira, Maria Luzia ^a   Ferro, Anabela ^d   Alonso, Isabel ^b   Do Céu Moreira, Maria ^b   Mendonça, Pedro ^c   Ferreirinha, Fátima ^d   Sequeiros, Jorge ^d   Giugliani, Roberto ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b Department of Internal Medicine ^*

^c FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d UNIVERSITY OF PORTO   (Portugal)

Author keywords

Machado Joseph disease; Polyglutamine diseases; SCA 7; SCA 8; Spinocerebellar ataxias

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAZIL; CONTROLLED STUDY; DEGENERATIVE DISEASE; EYELID RETRACTION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; MUTATION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ADULT; ALLELES; BRAZIL; FEMALE; GENE FREQUENCY; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEATS;

EID: 0034787294     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150170072     Document Type: Article

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