Article
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
Human molecular genetics - 1 Oct 1994
Figlewicz D A, Krizus A, Martinoli M G, Meininger V, Dib M, Rouleau G A, Julien J P
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily affecting motor neurons. The etiology of the majority of cases remains unknown. Recent findings from several laboratories suggest a role for neurofilaments in the development of motor neuron disorders. The C-terminal region of the human neurofilament heavy subunit (NEFH) contains a unique functional domain consisting of 43 repeat motifs...
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