Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
Source: Internal Medicine
KIF1A gene-associated neurological disease: the correlation between genotype and phenotype
Source: Revista de Neurologia
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
Source: Human Genetics and Genomics Advances
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
Source: Human Mutation
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