Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Summary: KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A, a gene that encodes an anterograde neuronal microtubule (MT) motor protein. Here we characterize the natural history of KAND in 117 individuals using a combina...

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Bibliographic Details

Published in:	HGG Advances
Main Authors:	Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung
Format:	Article
Language:	English
Published:	Elsevier 2021-04-01
Subjects:	KIF1A KAND kinesin microtubule ataxia spastic paraplegia
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666247721000075