Maria Mazurkiewicz-Bełdzińska

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).

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders