Associated Papers
Unraveling the Diversity of RANBP2: Protein Isoforms and Implications for Cellular Function and Human Disease.
Desgraupes S et al.
Journal of Molecular Biology, 2025
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.
Meroni A et al.
American Journal of Medical Genetics. Part A, 2023
Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention.
Sarigecili E et al.
Acta Neurologica Belgica, 2023
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype.
Ayaz A et al.
Clinical Neurology and Neurosurgery, 2022
A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.
Hu Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
Shen Q et al.
Plos Genetics, 2021
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.
Lee YJ et al.
Brain & Development, 2017
RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.
Sondhi V et al.
Brain & Development, 2016
Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.
Sell K et al.
Brain & Development, 2016
The interplay of infection and genetics in acute necrotizing encephalopathy.
Neilson DE
Current Opinion in Pediatrics, 2010
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Neilson DE et al.
American Journal of Human Genetics, 2009
Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation.
Hartley M et al.
Child Neurology Open, 0