Author

Yu-Feng Shen

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Open access Sep 2026

Integrating Single-Molecule Variant Phenotyping with Clinical Features Predicts Outcomes in KIF1A-Associated Neurological Disorder

Using KIF1A-associated neurological disorder (KAND) as a model system, single-molecule biophysical phenotyping of 91 pathogenic variants with longitudinal clinical characterization of 343 patients offers a prognostic tool and a stratification strategy for clinical trials.

Lu Rao, Wen-Xing Li, Jessica Waxler et al. · medRxiv · 0 citations