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Article

Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variant

27 May 2020

Abstract excerpt

OBJECTIVE: The NEK1 gene has been recently implicated in amyotrophic lateral sclerosis (ALS). This study aims to assess the influence of NEK1 variants on the occurrence of ALS and investigate the spectrum and clinical features of NEK1 loss-of-function (LOF) variants in a Taiwanese ALS cohort. METHODS: We screened 325 unrelated ALS patients for coding variants in NEK1 by targeted resequencing and queried the...

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PMID: 32462798
DOI: 10.1002/acn3.51064

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