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Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29977
Abstract: Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has…
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Keywords:
base deletion;
neuroaxonal dystrophy;
single base;
rnf170 single ... See more keywords