Associated Papers
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G et al.
Frontiers in Neurology, 2023
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M et al.
Annals of Human Genetics, 2021
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
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