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

Lu Rao Wen-Xing Li Jessica Waxler C. Cameron Celia Tam Yi-Chun Wang Charles A. LeDuc Yu-Feng Shen Arne Gennerich Wendy K. Chung
Sep 2026 · medRxiv · 0 citations
Medicine

TL;DR

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.

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