Associated Papers
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.
Riva N et al.
Frontiers in Neuroscience, 2022
35495032 (PubMed )
Supplement: Data_Sheet_1.docx
Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.
Tsai YS et al.
Annals of Clinical and Translational Neurology, 2020
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