Associated Papers
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Allington G et al.
Brain : a Journal of Neurology, 2025
39680505 (PubMed )
Supplement: awae395_supplementary_data.zip › brain-2024-01467-File007.xlsx › ST2
CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.
Bove R et al.
Movement Disorders Clinical Practice, 2025
Fission yeast Caprin protein is required for efficient heterochromatin establishment.
Zhang H et al.
Plos Genetics, 2025
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L et al.
Brain : a Journal of Neurology, 2023
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Delle Vedove A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Select a paper to view details