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  • Biallelic mutations in SNX1... Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
    Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S ... Nature genetics, 05/2015, Volume: 47, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new ...
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