Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

Parkinsonism and Related Disorders

Volumn 18, Issue 2, 2012, Pages 185-190

  Siebert, M ^a,b   Donis, K C ^b   Socal, M ^b   Rieder, C R M ^b   Emmel, V E ^b   Vairo, F ^b   Michelin Tirelli, K ^b   Franca M ^c   D'Abreu, A C ^c   Bettencourt, C ^d,e,f   Lima, M ^d,e   Lopes Cendes, I ^c   Saraiva Pereira, M L ^a,b   Jardim, L B ^a,b  

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

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d UNIVERSITY OF THE AZORES   (Portugal)

^e UNIVERSITY OF PORTO   (Portugal)

^f UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

Gaucher disease; Glucocerebrosidase gene; Machado Joseph disease; Parkinson disease; Spinocerebellar ataxia 3

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GLUCOCEREBROSIDASE GENE; HETEROZYGOTE; HUMAN; HUMAN CELL; LEUKOCYTE; MACHADO JOSEPH DISEASE; MALE; NUCLEIC ACID BASE SUBSTITUTION; PARKINSON DISEASE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; FEMALE; GENETIC VARIATION; GLUCOSYLCERAMIDASE; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; PEDIGREE;

EID: 84856234407     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2011.09.024     Document Type: Article

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