Associated Papers
The genetic driver of Acute Necrotizing Encephalopathy, RANBP2, regulates the inflammatory response to Influenza A virus infection.
Desgraupes S et al.
Nature Communications, 2026
Unraveling the Diversity of RANBP2: Protein Isoforms and Implications for Cellular Function and Human Disease.
Desgraupes S et al.
Journal of Molecular Biology, 2025
Bilateral Symmetrical Brain MRI Findings in Acute Necrotising Encephalopathy Type 1.
Hoppe AT et al.
Children (basel, Switzerland), 2025
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
A case report of recurrent acute necrotizing encephalopathy with RANBP2 mutation.
Wong KS et al.
Clinical Neurology and Neurosurgery, 2025
Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.
Fan C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Straka B et al.
Epilepsia Open, 2024
Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection.
Li J et al.
Pediatric Investigation, 2023
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.
Wu D et al.
Journal of Human Genetics, 2023
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
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant.
Carvalho DR et al.
Journal of Pediatric Genetics, 2023
Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention.
Sarigecili E et al.
Acta Neurologica Belgica, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy.
Gouy B et al.
Frontiers in Neurology, 2023
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 2022
RANBP2 Mutation Mimicking Viral Encephalitis.
Averdunk L et al.
Neuropediatrics, 2022
COVID-19 related acute necrotizing encephalopathy with extremely high interleukin-6 and RANBP2 mutation in a patient with recently immunized inactivated virus vaccine and no pulmonary involvement.
Pongpitakmetha T et al.
Bmc Infectious Diseases, 2022
Nuclear Pore Dysfunction in Neurodegeneration.
Spead O et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11.
Shibata A et al.
Neuroscience Letters, 2021
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan.
Ohashi E et al.
Brain & Development, 2021
Acute necrotizing encephalopathy-linked mutations in Nup358 impair interaction of Nup358 with TNRC6/GW182 and miRNA function.
Deshmukh P et al.
Biochemical and Biophysical Research Communications, 2021
Radiological manifestation of familial acute necrotizing encephalopathy with RANBP2 mutation in a Far-East Asian family: Case report.
Park YJ et al.
Medicine, 2021
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
Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy.
Paktinat M et al.
International Journal of Pediatrics, 2021
The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.
Muthaffar OY
Balkan Journal of Medical Genetics : Bjmg, 2020
RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family.
Chew HB et al.
Molecular Genetics and Metabolism Reports, 2020
Human herpesvirus 6-associated acute necrotizing encephalopathy in an infant with a mutation in the RANBP2 gene.
Huang X et al.
Journal of Paediatrics and Child Health, 2020
Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics.
Levine JM et al.
Multiple Sclerosis and Related Disorders, 2020
Relapsing necrotising encephalomyelopathy due to RANBP2 mutation.
Kelly E et al.
Practical Neurology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Acute Necrotizing Encephalopathy in Children: a Long Way to Go.
Lee YJ et al.
Journal of Korean Medical Science, 2019
RANBP2 Mutation in Clinically Undiagnosed Acute Necrotizing Encephalopathy.
Işıkay S et al.
Indian Journal of Pediatrics, 2018
Influenza-Associated Acute Necrotizing Encephalopathy in Siblings.
Howard A et al.
Journal of the Pediatric Infectious Diseases Society, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
Host genetics of severe influenza: from mouse Mx1 to human IRF7.
Ciancanelli MJ et al.
Current Opinion in Immunology, 2016
Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients.
Bloch C et al.
Open Forum Infectious Diseases, 2015
Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene.
Denier C et al.
Journal of the Neurological Sciences, 2014
[Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation].
Di Meglio C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014