Associated Papers
GEMIN5 and neurodevelopmental diseases: From functional insights to disease perception.
Martinez-Salas E et al.
Neural Regeneration Research, 2026
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J et al.
Brain and Behavior, 2024
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N et al.
Genes, 2023
36980979 (PubMed )
Supplement: genes-14-00707-s001.zip › Table_S2.xlsx › Sheet1
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Saida K et al.
Clinical Genetics, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S et al.
Nature Communications, 2021
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