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Article

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

Scientific reports - 30 Aug 2022

Theunissen Frances, Anderton Ryan S, Mastaglia Frank L, James Ian, Bedlack Richard, Akkari P Anthony

Abstract excerpt

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 using an in-silico short structural variant (SSV) evaluation algorithm and investigated in two cohorts of North American sALS...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36042248
DOI: 10.1038/s41598-022-18942-x
PMCID: PMC9427846

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