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• W2010301092 abstract "Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown." @default.
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• W2010301092 date "2004-12-13" @default.
• W2010301092 modified "2023-10-17" @default.
• W2010301092 title "Ataxia with oculomotor apraxia type 1 in Southern Italy: Late onset and variable phenotype" @default.
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• W2010301092 doi "https://doi.org/10.1212/01.wnl.0000145604.57000.36" @default.
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