Article
Genotype and defects in microtubule-based motility correlate with clinical severity in <i>KIF1A</i> Associated Neurological Disorder
2020-07-29
Abstract excerpt
KIF1A Associated Neurological Disorder (KAND) encompasses a recently identified group of rare neurodegenerative conditions caused by variants in KIF1A , a member of the kinesin-3 family of microtubule (MT) motor proteins. Here we characterize the natural history of KAND in 117 individuals using a combination of caregiver or self-reported medical history, a standardized measure of adaptive behavior, clinical record...
Topics
Open a Topic to create a Post that cites this publication.
Identifiers and source
- Literature Corpus work
- 8dc61180-4835-552e-ae71-879fc9c82bc5
- DOI
- 10.1101/2020.07.27.20162974
