Author

A. Durr

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Open access Sep 2026

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1).

BACKGROUND Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. OBJECTIVES We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carri...

Charlotte Mouraux, Jean-Loup Méreaux, C. Davoine et al. · Movement Disorders · 0 citations

Open access Aug 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone, and movement abnormalities

The data establish BHLHE22 as a previously unrecognized neurodevelopmental disease gene that results in a distinct syndrome characterised by abnormalities in brain development, cognition, tone and movement.

Carolyn Le, T. Kalaycı, Z. Uyguner et al. · Journal of Medical Genetics · 0 citations