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H. McLaughlin

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Review Aug 2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

UBTF-related CONDBA presents with early normal or mildly delayed development followed by regression and progressive ataxia, and elevated NFL may serve as a biomarker of neuronal injury in both humans and animal models.

A. Nagy, A. Luddy, Francine Molay et al. · 0 citations