Articles with "mutations tail" as a keyword



Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

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Published in 2024 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.52083

Abstract: Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to… read more here.

Keywords: neurofilament heavy; chain gene; heavy chain; mutations tail ... See more keywords