Articles with "rnf170 single" as a keyword



Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy

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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… read more here.

Keywords: base deletion; neuroaxonal dystrophy; single base; rnf170 single ... See more keywords