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This publication provides validated evidence that neurofilament proteins can serve as biomarkers to subclassify disease severity in patients with ALS and also as markers of phenoconversion in pre-symptomatic carriers of pathogenic mutations

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Autophagy deficiency in neurons results in buildup of ubiquitinated proteins, dystrophy of neural terminals, impairments in synaptic transmission, and eventually, neurodegeneration observed in both neurodegenerative and neurodevelopmental disorders [245, 249, 250]