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5 p, 238.9 KB Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3) : a two-case report / Bettencourt, Conceição (Universidade dos Açores. Center of Research in Natural Resources) ; Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d’Ecologia) ; Coutinho, Paula (Universidade do Porto. Institute for Molecular and Cell Biology) ; Rizzu, Patrizia (VU University Medical Center. Department of Clinical Genetics) ; Vasconcelos, João (Hospital of Divino Espirito Santo. Department of Neurology) ; Kay, Teresa (Hospital of D. Estefania. Department of Clinical Genetics (Lisboa, Portugal)) ; Cymbron, Teresa (Universidade dos Açores. Center of Research in Natural Resources) ; Raposo, Mafalda (Universidade dos Açores. Center of Research in Natural Resources) ; Heutink, Peter (VU University Medical Center. Department of Clinical Genetics) ; Lima, Manuela (Universidade dos Açores. Center of Research in Natural Resources)
Background: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. [...]
2011 - 10.1186/1471-2377-11-131
BMC Neurology, Vol. 11, N. 131 (October 2011) , p. 1-5  

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