Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala - Sasaki, H; Martins, S; Giunti, P; Soong, BW; Riess, O; Tsuji, S; Countinho, P; Nicholson, GA; Sequeiros, J; Amorim, A; Ranum, LPW; Stevanin, G; et al. (Archives of Neurology, 2012)
Keywords: Asia; Asia - epidemiology; Ataxin-3; Australia; Australia - ethnology; Australian Aboriginal and Torres Strait Islander Peoples; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Family Health; Female; Genetic Association Studies; Genetic Predisposition to Disease; Haplotypes; Humans; Machado-Joseph Disease; Machado-Joseph Disease - ethnology; Machado-Joseph Disease - ethnology - genetics; Machado-Joseph Disease - genetics; Male; Medical sciences; Minority & ethnic groups; Mutation; Mutation - genetics; Native Hawaiian or Other Pacific Islander; Nerve Tissue Proteins; Nerve Tissue Proteins - genetics; Neurological disorders; Neurology; Northern Territory; Northern Territory - epidemiology; Northern Territory - ethnology; Nuclear Proteins; Nuclear Proteins - genetics; Phylogenetics; Phylogeny; Polymorphism; Polymorphism, Single Nucleotide; Polymorphism, Single Nucleotide - genetics; Repressor Proteins; Repressor Proteins - genetics; Terminal Repeat Sequences; Terminal Repeat Sequences - genetics; Australia; Asia; Northern Territory; Nervous system diseases; Joseph disease; Central nervous system disease; Metabolic diseases; Degenerative disease; Enzymopathy; Aminoacid disorder; Genetic disease; Cerebral disorder