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Article

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

30 Jan 2021

Abstract excerpt

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 combination of caregiver or self-reported medical history, a standardized measure of adaptive behavior, clinical records, and...

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PMID: 33880452
DOI: 10.1016/j.xhgg.2021.100026

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