Functional genomics of PRUNE1 in neurodevelopmental disorders (NDDs) tied to medulloblastoma (MB) and other tumors

F Bibbò, C Sorice, V Ferrucci, M Zollo - Frontiers in oncology, 2021 - frontiersin.org
We analyze the fundamental functions of Prune_1 in brain pathophysiology. We discuss the
importance and maintenance of the function of Prune_1 and how its perturbation influences …

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

G Scorrano, L Battaglia, R Spiaggia, A Basile… - Frontiers in …, 2023 - frontiersin.org
Prune exopolyphosphatase 1 (PRUNE1) is a short-chain phosphatase that is part of the
aspartic acid-histidine-histidine (DHH) family of proteins. PRUNE1 is highly expressed in the …

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

A Yahia, AAA Hamed, IN Mohamed… - European Journal of …, 2023 - nature.com
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of
monogenic conditions that share common pathogenic mechanisms and include hereditary …

Consanguinity and willingness to perform premarital genetic screening in Sudan

YAM Elhadi, SS Alrawa, ESA Alfadul… - European Journal of …, 2023 - nature.com
Consanguineous marriage is prevalent in certain world regions due to cultural, economic,
and social reasons. However, it can lead to negative consequences including an increased …

[PDF][PDF] Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration

G Stevanin, A Hamed, I Mohamed, M Elseed, M Salih… - 2022 - academia.edu
Hereditary spinocerebellar degenerative disorders (SCDs) is an umbrella term that covers a
group of monogenic conditions that share common pathogenic mechanisms and include …

Association of ultra-rare genetic variants with epilepsy

MEK Musa - 2023 - tobias-lib.ub.uni-tuebingen.de
Epilepsy represents a wide spectrum of phenotypes with various etiologies and
comorbidities. Genetic predisposition to epilepsy is conferred by rare variants and common …