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Author

K. Schon

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Open access Aug 2026

Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study

Although AT subtypes differ substantially in childhood and adolescence, neurological decline converges to a similar pace in adulthood, irrespective of subtype or genotype, which inform counselling, prognostication, and the design of interventional trials, including mutation-specific therapies.

A. Hensiek, L. Bottolo, M. Tiet et al. · 0 citations
Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · 0 citations

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