NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

Abstract

Niemann–Pick disease type C (NP-C) is a rare autosomal-recessive neurodegenerative disease featuring pleiotropic neurological, psychiatric and visceral manifestations. Since many of the adult manifestations can be non-specific or missed, NP-C often goes undetected in adult-onset patients. Here we hypothesized that targeted high-throughput sequencing allows… (More)
DOI: 10.1007/s00415-015-7889-y

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