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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022954859> ?p ?o ?g. }

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• W2022954859 abstract "We describe several families of African origin with SCA3/Machado-Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with parkinsonian signs to a syndrome clinically almost indistinguishable from idiopathic, L-dopa-responsive Parkinson's disease. In contrast, these parkinsonian phenotypes are rare in those of European descent. Haplotype analysis shows that these African families do not share a common founder, thus a cis-acting element in the promoter is unlikely to be responsible these unusual presentations. We suggest that trans-acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities." @default.
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• W2022954859 date "2002-04-25" @default.
• W2022954859 modified "2023-10-13" @default.
• W2022954859 title "Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians" @default.
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• W2022954859 doi "https://doi.org/10.1002/mds.10241" @default.
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