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Author

M. Zawadzka

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Case report Open access Jul 2026

When LHON Mimics Demyelination: Area Postrema Syndrome in Biallelic DNAJC30 Variants

This case further expands the neuro-ophthalmic spectrum associated with DNAJC30 variants and suggests that DNAJC30-related disease may closely mimic seronegative neuromyelitis optica spectrum disorder (NMOSD).

Kamil Dzwilewski, Magdalena Krygier, Jakub Szymarek et al. · 0 citations
Review Open access Aug 2026

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review

This temporal dissociation reflects differential tissue vulnerability to intracellular ATP/GTP and NAD+ depletion caused by the primary enzymatic defect, and represents a continuous PRPS1-related neurometabolic spectrum.

Bartosz Rodziewicz, M. Kacperski, Kacper Kisiński et al. · 0 citations

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