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- W2053761006 abstract "After decades of confusion as a result of the marked clinical variability of spinocerebellar degeneration, molecular analyses have permitted the identification of loci and genes, which constitute the basis of a new classification. However, even greater genetic heterogeneity is suspected and several phenotypes, such as complex forms of spastic paraplegia and autosomal recessive ataxias, have not yet been thoroughly explored. Unexpectedly, the genes responsible for Friedreich's ataxia and a form of autosomal recessive spastic paraplegia place these diseases in the category of mitochondrial disorders. The unstable mutations caused by trinucleotide repeat expansions are responsible for a growing number of inherited cerebellar ataxias." @default.
- W2053761006 created "2016-06-24" @default.
- W2053761006 creator A5027293126 @default.
- W2053761006 creator A5027489586 @default.
- W2053761006 date "2000-08-01" @default.
- W2053761006 modified "2023-10-11" @default.
- W2053761006 title "Clinical and genetic aspects of spinocerebellar degeneration" @default.
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