Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

Abstract Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) repeat variant in NEFH was selected usin...

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Bibliographic Details
Main Authors: Frances Theunissen, Ryan S. Anderton, Frank L. Mastaglia, Ian James, Richard Bedlack, P. Anthony Akkari
Format: Article
Language:English
Published: Nature Portfolio 2022-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-18942-x