Associated Papers
Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.
Idkaidak S et al.
Annals of Medicine and Surgery (2012), 2025
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G et al.
Frontiers in Neurology, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL et al.
American Journal of Medical Genetics. Part A, 2022
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA et al.
Bmc Medical Genomics, 2022
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
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H et al.
Human Molecular 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
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN et al.
American Journal of Medical Genetics. Part A, 2019
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D et al.
The Turkish Journal of Pediatrics, 2019
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E et al.
Clinical Genetics, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B et al.
Neuropediatrics, 2018
PRUNE1: a disease-causing gene for secondary microcephaly.
Karakaya M et al.
Brain : a Journal of Neurology, 2017
Reply: PRUNE1: a disease-causing gene for secondary microcephaly.
Baple EL et al.
Brain : a Journal of Neurology, 2017
Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
Costain G et al.
American Journal of Medical Genetics. Part A, 2017