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Author

A. Nagy

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Open access Aug 2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants

Objectives To report the histopathologic features seen in congenital deafness and adult-onset leukoencephalopathy (DEAPLE) caused by biallelic pathogenic variants in KARS and expand on neuroradiologic features reported in other cases. Methods We present the clinical, neuroimaging, and histopathologic findings of a pati...

A. Nagy, Michael S. Marshall, Matthew P. Frosch et al. · 0 citations
Review Open access 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

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