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

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. METHOD...

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Detalles Bibliográficos
Autores principales: Tsai, Yu‐Shuen, Lin, Kon‐Ping, Jih, Kang‐Yang, Tsai, Pei‐Chien, Liao, Yi‐Chu, Lee, Yi‐Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318098/
https://www.ncbi.nlm.nih.gov/pubmed/32462798
http://dx.doi.org/10.1002/acn3.51064