Sep 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
S. Efthymiou, K. Tabata, H. Dafsari et al.
· medRxiv · 0 citations
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Case report
Jul 2026
“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”
Mücahid Besnek, Busra Aynekin, Ayten Güleç et al.
· Neurological Sciences · 0 citations
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