Author

G. Demidov

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Review Open access Sep 2026

Assessment of microexon-associated junction usage in Parkinson’s disease and spinocerebellar Ataxia type 3

Background Microexons are short exonic sequences of 3–30 nucleotides that undergo alternative splicing and have been implicated in several neurodevelopmental disorders. However, their contribution to neurodegenerative diseases remains insufficiently characterized. Methods We analyzed microexon-associated junction usage...

Kira Mehnert, Jeannette Hübener-Schmid, J. Admard et al. · Frontiers in Molecular Neuro... · 0 citations

Open access Sep 2026

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this associ...

Maria-Gerasimoula Karali, Susanne Kohl, F. Testa et al. · European Journal of Human Ge... · 0 citations

Open access Jul 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Downstream regulatory variants are a substantial cause of NKX2-1-RDs and diagnostic strategies should include this regulatory region and systematic structural variant detection, particularly when coding variants have been excluded.

Robin Wijngaard, Lucy Dougherty-de Miguel, G. Demidov et al. · Movement Disorders · 0 citations